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Case Reports
. 2001 Mar 13;56(5):687-90.
doi: 10.1212/wnl.56.5.687.

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

R Carrozzo  1 , 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
Affiliations
Case Reports

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

R Carrozzo et al. Neurology. .

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.

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