Article
Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.
Neuromuscular disorders : NMD - 1 Feb 2011
Marchesi Chiara, Ciano Claudia, Salsano Ettore, Nanetti Lorenzo, Milani Micaela, Gellera Cinzia, Taroni Franco, Fabrizi Gian Maria, Uncini Antonino, Pareyson Davide
Abstract excerpt
Mitofusin-2 gene (MFN2) mutations cause Charcot-Marie-Tooth type 2A (CMT2A), sometimes complicated by additional features such as optic atrophy, hearing loss, upper motor neuron signs and cerebral white-matter abnormalities. Here we report, for the first time, the occurrence of motor neuron disease, consistent with amyotrophic lateral sclerosis (ALS), in a 62-year-old woman affected by early-onset slowly...
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