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...
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