G.P.89 Early onset mitofusin 2 gene (MFN2) mutation: Report of eight patients

Abstract Mutations in the mitofusin 2 gene (MFN2), encoding an outer mitochondrial membrane protein of the dynamin family GTPase, cause mainly Charcot–Marie–Tooth 2A (CMT2A), hereditary motor and sensory neuropathy type VI (HMSN VI) and axonal neuropathy with spastic paraparesis. Hereby, we report e...

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