Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

Charif, M; Chevrollier, A; Gueguen, N; Kane, S; Bris, C; Goudenege, D; Desquiret-Dumas, V; Meunier, I; Mochel, F; Jeanjean, L; Varenne, F; Procaccio, V; Reynier, P; Bonneau, D; Amati-Bonneau, P; Lenaers, G

Lenaers, G (通讯作者)，Univ Angers, SFR ICAT, Inst MitoVasc, MitoLab Team,UMR CNRS 6015,INSERM U1083, F-49933 Angers, France.;Lenaers, G (通讯作者)，Univ Hosp Angers, Serv Neurol, F-49933 Angers, France.

GENES, 2022; 13 (7):

Abstract

Dominant Optic Atrophy (DOA) is one of the most common inherited mitochondrial diseases, leading to blindness. It is caused by the chronic degeneratio......

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