SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness-Reference-Cited by-同舟云学术

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Published:2007-02-14 Issue:3 Volume:130 Page:862-874
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

Carrozzo R.,Dionisi-Vici C.,Steuerwald U.,Lucioli S.,Deodato F.,Di Giandomenico S.,Bertini E.,Franke B.,Kluijtmans L. A. J.,Meschini M. C.,Rizzo C.,Piemonte F.,Rodenburg R.,Santer R.,Santorelli F. M.,van Rooij A.,Vermunt-de Koning D.,Morava E.,Wevers R. A.

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/130/3/862/789667/awl389.pdf

Reference29 articles.

1. Recommendations for a nomenclature system for human gene mutations

2. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

3. Mutation analysis in 16 patients with mtDNA depletion

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