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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. Linkage  analysis and PCR sequencing revealed a missense mutation (NM_014874.3:c.1066  A&gt;G) in the MFN2 gene, resulting in an animo acid substitution of threonine  to alanine in condon 356 (Thr356Ala). This is a novel phenotype and mutation  for CMT family.

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