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Abstract

Thymidine kinase 2 (TK2) is a mitochondrial enzyme participating in the salvage of deoxyribonucleotides needed for mitochondrial DNA (mtDNA) replication. TK2 catalyzes the first and rate-limiting step of the deoxypyrimidine salvage pathway. Mutations in TK2 were typically associated with a severe myopathic form of mtDNA depletion syndrome (MDS) characterized by a dramatic decrease in mtDNA copy number in muscle that manifests during infancy and leads to the early death of most patients.1 Recently, several patients have been diagnosed with a late-onset or slow-progressing form of the disease manifesting as a milder myopathy with mtDNA multiple deletions.2–5 Here we describe 7 adult cases presenting with a mild myopathy compatible with a relatively normal life for decades and associated with multiple mtDNA deletions and no marked depletion in skeletal muscle. TK2 activity was drastically reduced in cultured fibroblasts of 2 of these patients, suggesting that redundant or complementary biochemical mechanisms could bypass the defect in some individuals, in contrast with severely affected infantile patients.

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Supplementary Material

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References

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Chanprasert S, Wang J, Weng SW, et al. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab 2013;110:153–161.
2.
Alston CL, Schaefer AM, Raman P, et al. Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. Neurology 2013;81:2051–2053.
3.
Behin A, Jardel C, Claeys KG, et al. Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. Neurology 2012;78:644–648.
4.
Paradas C, Gutierrez Rios P, Rivas E, Carbonell P, Hirano M, Dimauro S. TK2 mutation presenting as indolent myopathy. Neurology 2013;80:504–506.
5.
Tyynismaa H, Sun R, Ahola-Erkkila S, et al. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum Mol Genet 2012;21:66–75.
6.
Mancuso M, Filosto M, Bonilla E, et al. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. Arch Neurol 2003;60:1007–1009.
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Vila MR, Segovia-Silvestre T, Gamez J, et al. Reversion of mtDNA depletion in a patient with TK2 deficiency. Neurology 2003;60:1203–1205.

Information & Authors

Information

Published In

Neurology®
Volume 84Number 22June 2, 2015
Pages: 2286-2288
PubMed: 25948719

Publication History

Received: November 4, 2014
Accepted: January 29, 2015
Published online: May 6, 2015
Published in print: June 2, 2015

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Funding Information

Study funding: Drs. E. García-Arumí, M.A. Martín, R. Martí, and B. Bornstein have received funding from the Spanish Instituto de Salud Carlos III (grant PI12/02149 to E.G.-A., PI12/01683 to M.A.M., PI12/00322 to R.M., and PI12/01795 to B.B.). Dr. Y. Cámara has received a postdoctoral grant (grant DdT1 2013) from the French Muscular Dystrophy Association-Téléthon (AFMTéléthon).Disclosure: Y. Cámara has received a postdoctoral grant (grant DdT1 2013) from the French Muscular Dystrophy Association-Téléthon (AFMTéléthon). L. Carreño-Gago reports no disclosures relevant to the manuscript. M. Martín has received funding from the Spanish Instituto de Salud Carlos III (grants PI12/01683). M. Melià, A. Blázquez, A. Delmiro, G. Garrabou, C. Morén, J. Díaz-Manera, and E. Gallardo report no disclosures relevant to the manuscript. B. Bornstein has received funding from the Spanish Instituto de Salud Carlos III (grant PI12/01795). E. López-Gallardo, A. Hernandez-Lain, B. San Millan, E. Cancho, and J. Rodríguez-Vico report no disclosures relevant to the manuscript. R. Martí has received funding from the Spanish Instituto de Salud Carlos III (grant PI12/00322). E. García-Arumí has received funding from the Spanish Instituto de Salud Carlos III (grant PI12/02149). Go to Neurology.org for full disclosures.

Authors

Affiliations & Disclosures

Yolanda Cámara, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
(1) French Muscular Dystrophy Association-T?l?thon (AFMT?l?thon), Grant number: DdT1 2013
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
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1.
NONE
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1.
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1.
NONE
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Lidia Carreño-Gago, BSc
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Miguel A. Martín, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
Spanish Instituto de Salud Carlos III, grant number PI12/01683, Principal Investigator, 2013-2015.
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Maria J. Melià, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Alberto Blázquez, BSc
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Aitor Delmiro, BSc
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Gloria Garrabou, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Constanza Morén, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Jorge Díaz-Manera, MD, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
Genzyme, speaker honoraria and travel grant
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Eduard Gallardo, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
AUTORES (por orden de firma): RH Brown, MF Ho, I Illa, E INVENTORS: Ho, Brown, Illa, Gallardo TITLE: Blood-Based Assay for Dysferlinopathies N? REGISTRY: 7,172,858 PRIORITY DATE: February 6th2007 ENTITIES: Massachusetts General Hospital, Boston/ Hospital de Sant Pau, Barcelona PAISES: USA, CANADA, JAPON
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Belén Bornstein, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
Spanish Instituto de Salud Carlos III (grant PI12/01795)
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Ester López-Gallardo, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Aurelio Hernández-Lain, MD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Beatriz San Millán, MD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Esther Cancho, MD, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Jaime Samuel Rodríguez-Vico, MD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Ramon Martí, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
Spanish Instituto de Salud Carlos III, PI12/00322, Principal Investigator, 2013-2015.
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Elena García-Arumí, PhD
From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
Spanish Instituto de Salud Carlos III, PI12/02149, principal investigator,2012-2014
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
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Notes

Correspondence to Dr. Cámara: [email protected]

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