The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle-Reference-Cited by-同舟云学术

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The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle

Published:2008-08 Issue:4 Volume:94 Page:485-490
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Brautbar Ariel,Wang Jing,Abdenur Jose E.,Chang Richard C.,Thomas Janet A.,Grebe Theresa A.,Lim Cynthia,Weng Shao-Wen,Graham Brett H.,Wong Lee-Jun

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. Atypical presentations of leigh syndrome: a case series and review;Huntsman;Pediatr. Neurol.,2005

2. Leigh syndrome: clinical features and biochemical and DNA abnormalities;Rahman;Ann. Neurol.,1997

3. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh’s syndrome;Santorelli;Ann. Neurol.,1993

4. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS;Santorelli;Biochem. Biophys. Res. Commun.,1997

5. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency;Chol;J. Med. Genet.,2003

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