Article
Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.
Neuromuscular disorders : NMD - 1 Dec 2008
Banchs I, Casasnovas C, Montero J, Martínez-Matos J A, Volpini V
Abstract excerpt
Mutations in the Mitofusin 2 (MFN2) gene have been related to the axonal type of Charcot-Marie-Tooth type 2 (CMT 2A). We report the first two Spanish families with CMT 2 and mutations in MFN2 gene. Molecular studies of one family with late onset revealed the novel mutation Arg364Gln. The affected family members presented mild clinical and electrophysiological worsening after 14 years of follow-up. The other...
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