The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
- 13 March 2001
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 56 (5) , 687-690
- https://doi.org/10.1212/wnl.56.5.687
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.Keywords
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