The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

Maternally inherited mitochondrial DNA (mtDNA) mutations cause symptoms of Leber hereditary optic neuropathy (LHON) in -1 in 30,000 individuals. Most of the affected individuals lack respiratory chain defects1 and there is no proven prophylactic treatment.

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Bibliographische Detailangaben
Hauptverfasser: Dombi, E, Diot, A, Morten, K, Carver, J, Lodge, T, Fratter, C, Ng, Y.S, Liao, C, Muir, R, Blakely, E.L, Hargreaves, I, Al-Dosary, M, Sarkar, G, Hickman, S.J, Downes, S.M, Jayawant, S, Yu-Wai-Man, P, Taylor, R.W, Poulton, J
Format: Artikel
Sprache:eng
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Zusammenfassung:Maternally inherited mitochondrial DNA (mtDNA) mutations cause symptoms of Leber hereditary optic neuropathy (LHON) in -1 in 30,000 individuals. Most of the affected individuals lack respiratory chain defects1 and there is no proven prophylactic treatment.
DOI:10.1212/WNL.0000000000002688