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Abstract

Congenital myopathies are phenotypically and genetically heterogeneous.1 While SCN4A mutations were previously described in hypokalemic or hyperkalemic periodic paralysis, paramyotonia, myotonia congenita, or myasthenic syndrome,2–6 loss-of-function recessive mutations in SCN4A were recently identified in 11 individuals with severe fetal hypokinesia or congenital myopathies.7 Among them, 7 died in the perinatal period and 4 had congenital hypotonia, significant respiratory and swallowing difficulties, and spinal deformities.

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References

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Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG. Congenital myopathies: an update. Curr Neurol Neurosci Rep 2012;12:165–174.
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Plassart E, Reboul J, Rime CS, et al. Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations. Eur J Hum Genet 1994;2:110–124.
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Ptácek LJ, Tawil R, Griggs RC, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994;44:1500–1503.
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Sternberg D, Maisonobe T, Jurkat-Rott K, et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124:1091–1099.
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Magot A, David A, Sternberg D, Péréon Y. Focal and abnormally persistent paralysis associated with congenital paramyotonia. BMJ Case Rep 2014; pii: bcr2014204430.
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Habbout K, Poulin H, Rivier F, et al. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. Neurology 2016;86:161–169.
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Zaharieva IT, Thor MG, Oates EC, et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or “classical” congenital myopathy. Brain 2016;139:674–691.

Information & Authors

Information

Published In

Neurology®
Volume 88Number 4January 24, 2017
Pages: 414-416
PubMed: 28003497

Publication History

Received: May 17, 2016
Accepted: October 19, 2016
Published online: December 21, 2016
Published in print: January 24, 2017

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Funding Information

Study funding: This work was supported by Fondation pour la Recherche Médicale and the France Génomique National infrastructure and funded as part of the “Investissements d'Avenir” program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09) and by Fondation Maladies Rares within the frame of the “Myocapture” sequencing project.Disclosure: S. Mercier reports no disclosures relevant to the manuscript. X. Lornage received research support from the Fondation pour la Recherche Médicale and the France Génomique National infrastructure and was funded as part of the “Investissements d'Avenir” program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09) and the Fondation Maladies Rares within the frame of the “Myocapture” sequencing project. E. Malfatti, P. Marcorelles, F. Letournel, C. Boscher, G. Caillaux, and A. Magot report no disclosures relevant to the manuscript. J. Böhm received research support from the Fondation pour la Recherche Médicale and the France Génomique National infrastructure and was funded as part of the “Investissements d'Avenir” program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09) and the Fondation Maladies Rares within the frame of the “Myocapture” sequencing project. A. Boland, F. Deleuze, N. Romero, and Y. Pereon report no disclosures relevant to the manuscript. J. Laporte received research support from the Fondation pour la Recherche Médicale and the France Génomique National infrastructure and was funded as part of the “Investissements d'Avenir” program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09) and the Fondation Maladies Rares within the frame of the “Myocapture” sequencing project. Go to Neurology.org for full disclosures.

Authors

Affiliations & Disclosures

Sandra Mercier, MD, PhD*
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
Disclosure
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NONE
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NONE
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Xavière Lornage, MS*
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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Edoardo Malfatti, MD, PhD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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Frontiers in Neurology, Associate Editor, 2015-
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Pascale Marcorelles, MD, PhD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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Franck Letournel, MD, PhD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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Cécile Boscher, MD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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Gaëlle Caillaux, MD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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Armelle Magot, MD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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Johann Böhm, PhD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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Anne Boland, PhD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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NONE
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1.
NONE
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NONE
Jean-François Deleuze, PhD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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
Norma Romero, MD, PhD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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
Yann Péréon, MD, PhD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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
Jocelyn Laporte, PhD
From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.
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.
the France G?nomique National infrastructure, funded as part of the ?Investissements d?Avenir? program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09)
Research Support, Foundations and Societies:
1.
Fondation pour la Recherche M?dicale, the Fondation Maladies Rares whithin the frame of the ?Myocapture? sequencing project.
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

Notes

Correspondence to Dr. Mercier: [email protected]
*
These authors contributed equally as co–first authors.
These authors contributed equally as co–last authors.

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