Send to

Choose Destination
Genet Mol Res. 2012 May 18;11(2):1454-9. doi: 10.4238/2012.May.18.5.

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

Author information

Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, Huanggu, China.


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>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.

[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Fundacao de Pesquisas Cientificas de Ribeirao Preto
Loading ...
Support Center