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 front the proposita as the likely explanation of her severe illness. The findings expand the genetic variants associated with LS.
Original language | English |
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Pages (from-to) | 687-690 |
Number of pages | 4 |
Journal | Neurology |
Volume | 56 |
Issue number | 5 |
Publication status | Published - Mar 13 2001 |
ASJC Scopus subject areas
- Neuroscience(all)