Charcot-Marie-Tooth

A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease

Y. W. Wang, Han, W. T., Jiang, M., Lu, C. X., Li, X. F., Zhang, X., and Li, J. X., A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease, vol. 11. pp. 1454-1459, 2012.

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 Chinese family with CMT disease in which the phenotype of affected individuals varied, and the weakness condition of the distal legs in males, except the proband, was less severe than in females in this family.

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