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.

Carrozzo, R., Tessa, A., VAZQUEZ MEMIJE, M.E., Piemonte, F., Patrono, C., Malandrini, A., et al. (2001). The T9176G mt DNA mutation severely affects AATP production and results in Leigh syndrome. NEUROLOGY, 56(5), 687-690.

The T9176G mt DNA mutation severely affects AATP production and results in Leigh syndrome

MALANDRINI, ALESSANDRO;FEDERICO, ANTONIO;
2001

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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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/6865
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