Article
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
Brain : a journal of neurology - 1 Aug 2006
Chung K W, Kim S B, Park K D, Choi K G, Lee J H, Eun H W, Suh J S, Hwang J H, Kim W K, Seo B C, Kim S H, Son I H, Kim S M, Sunwoo I N, Choi B O
Abstract excerpt
Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to cause both Charcot-Marie-Tooth 2A (CMT2A) and hereditary motor and sensory neuropathy VI (HMSN VI). It is well known that HMSN VI is an axonal CMT neuropathy with optic atrophy. However, the differences between CMT2A and HMSN VI with MFN2 mutations remained to be clarified. Therefore,...
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