Article
A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease.
Genetics and molecular research : GMR - 18 May 2012
Wang Y W, Han W T, Jiang M, Lu C X, Li X F, Zhang X, Li J X
Abstract excerpt
Charcot-Marie-Tooth (CMT) is a group of clinically and genetically heterogeneous inherited neuromuscular disorders. At present, more than 30 loci have been reported to be associated with CMT disease; point mutations in the mitofusin 2 (MFN2) gene is one of the most common causes. We studied a Chi...
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