Article
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
Neurology - 26 Jul 2005
Lawson Victoria H, Graham Brad V, Flanigan Kevin M
Abstract excerpt
BACKGROUND: Axonal neuropathy linked to the CMT2A locus was originally associated with a mutation in the KIF1B gene. However, mutations in this gene have not been described associated with any other CMT2A families. Recently, mutations in the MFN2 gene, encoding the mitochondrial GTPase mitofusin 2 (Mfn2), have been identified as causative of CMT2A in seven families. The authors report three additional CMT2A...
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