Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Gamez, J.
Right arrow Articles by Hirano, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Gamez, J.
Right arrow Articles by Hirano, M.
Related Collections
Right arrow Gastrointestinal
Right arrow Muscle disease
Right arrow Mitochondrial disorders

Neurology 2002;59:455-457
© 2002 American Academy of Neurology
Brief Communications

Phenotypic variability in a Spanish family with MNGIE

J. Gamez, MD, C. Ferreiro, BS, M. L. Accarino, MD, L. Guarner, MD, S. Tadesse, BS, R. A. Martí, PhD, A. L. Andreu, MD, PhD, N. Raguer, MD, C. Cervera, MD and M. Hirano, MD

From the Departments of Neurology (Drs. Gamez and Cervera), Gastroenterology (Drs. Accarino and Guarner), Neurophysiology (Dr. Raguer), and CIBBM (Dr. Andreu), Hospital Gral, Vall d’Hebron, Barcelona, Spain; and Department of Neurology (Drs. Martí and Hirano, and C. Ferreiro and S. Tadesse), Columbia University College of Physicians and Surgeons, New York, NY.

Address correspondence and reprint requests to Dr. M. Hirano, Department of Neurology, Columbia University College of Physicians and Surgeons, 630 W. 168th St., P & S 4-443, New York, NY 10032; e-mail: mh29{at}Columbia.edu

Clinical, biochemical, and genetic features of a Spanish family with mitochondrial neurogastrointestinal encephalomyopathy are reported. The proband presented with severe gastrointestinal dysmotility and the affected sister had extraocular muscle weakness. In both affected individuals, biochemical defects of thymidine phosphorylase and a pathogenic G-to-A transition mutation at nucleotide 435 in the thymidine phosphorylase gene were identified. The first thymidine phosphorylase mutation identified in Spain showed phenotypic variability at onset.




This article has been cited by other articles:


Home page
 NeurologyHome page
G. Hudson, M. Deschauer, K. Busse, S. Zierz, and P. F. Chinnery
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism
Neurology, January 25, 2005; 64(2): 371 - 373.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. A. Martin, A. Blazquez, R. Marti, J. Bautista, M. C. Lara, A. Cabello, Y. Campos, O. Belda, A. L. Andreu, and J. Arenas
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE
Neurology, October 26, 2004; 63(8): 1536 - 1537.
[Full Text] [PDF]

Home page
 Clin. Chem.Home page
R. Marti, A. Spinazzola, S. Tadesse, I. Nishino, Y. Nishigaki, and M. Hirano
Definitive Diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy by Biochemical Assays
Clin. Chem., January 1, 2004; 50(1): 120 - 124.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2002 by AAN Enterprises, Inc.