The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

R. Carrozzo; A. Tessa; M. E. Vázquez-Memije; F. Piemonte; C. Patrono; A. Malandrini; C. Dionisi-Vici; L. Vilarinho; M. Villanova; H. Schägger; A. Federico; E. Bertini; Filippo M. Santorelli

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

R. Carrozzo, A. Tessa, M. E. Vázquez-Memije, F. Piemonte, C. Patrono, A. Malandrini, C. Dionisi-Vici, L. Vilarinho, M. Villanova, H. Schägger, A. Federico, E. Bertini, Filippo M. Santorelli

Research output: Contribution to journal › Article › peer-review

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
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)

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The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. / Carrozzo, R.; Tessa, A.; Vázquez-Memije, M. E.; Piemonte, F.; Patrono, C.; Malandrini, A.; Dionisi-Vici, C.; Vilarinho, L.; Villanova, M.; Schägger, H.; Federico, A.; Bertini, E.; Santorelli, Filippo M.

In: Neurology, Vol. 56, No. 5, 13.03.2001, p. 687-690.

Research output: Contribution to journal › Article › peer-review

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AU - Carrozzo, R.

AU - Tessa, A.

AU - Vázquez-Memije, M. E.

AU - Piemonte, F.

AU - Patrono, C.

AU - Malandrini, A.

AU - Dionisi-Vici, C.

AU - Vilarinho, L.

AU - Villanova, M.

AU - Schägger, H.

AU - Federico, A.

AU - Bertini, E.

AU - Santorelli, Filippo M.

PY - 2001/3/13

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N2 - 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.

AB - 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.

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The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

Abstract

ASJC Scopus subject areas

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