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 front the proposita as the likely explanation of her severe illness. The findings expand the genetic variants associated with LS.
|Number of pages||4|
|Publication status||Published - Mar 13 2001|
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