| Literature DB >> 11245730 |
R Carrozzo1, A Tessa, M E Vázquez-Memije, F Piemonte, C Patrono, A Malandrini, C Dionisi-Vici, L Vilarinho, M Villanova, H Schägger, A Federico, E Bertini, F M Santorelli.
Abstract
The authors identified a novel mtDNA mutation (T9176G) in the ATPase 6 gene in a family in which a 10-year-old girl had a severe neurodegenerative disorder, her elder sister had died of Leigh syndrome (LS), and a maternal uncle had a spinocerebellar disorder. Biochemical studies disclosed a reduced rate of ATP synthesis in skin fibroblast cultures from the proposita as the likely explanation of her severe illness. The findings expand the genetic variants associated with LS.Entities:
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Year: 2001 PMID： 11245730 DOI： 10.1212/wnl.56.5.687
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910