Journal
NEUROLOGY
Volume 56, Issue 5, Pages 687-690Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.56.5.687
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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 syn drome (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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