Article
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.
Neurology - 9 Dec 2008
Del Bo R, Moggio M, Rango M, Bonato S, D'Angelo M G, Ghezzi S, Airoldi G, Bassi M T, Guglieri M, Napoli L, Lamperti C, Corti S, Federico A, Bresolin N, Comi G P
Abstract excerpt
BACKGROUND: The axonal forms of Charcot-Marie-Tooth (CMT2) disease are a clinically and genetically heterogeneous group of disorders. Mitofusin 2 gene (MFN2) mutations are the most common cause of CMT2. Complex phenotypes have been described in association with MFN2 gene mutations, including CMT2 with pyramidal features (hereditary motor and sensory neuropathy [HSMN V]) and CMT2 with optic atrophy (HMSN VI)....
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