Article ID Journal Published Year Pages File Type
3079295 Neuromuscular Disorders 2014 7 Pages PDF
Abstract

•Disturbed mitochondrial dynamics is an important cause of neuromuscular disorders.•OPA1 and MFN2 are two important mediators of mitochondrial fusion.•Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA).•Pathogenic MFN2 mutations cause axonal Charcot–Marie–Tooth disease (CMT-2A).•Treatment options are currently limited and remain mostly supportive.

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