Cx32 유전자에서 새로이 발견된 돌연변이 V136A와 EGR2 유전자 돌연변이 R359W를 보인 Charcot-Marie-Tooth 환자

Abstract

Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type 1, DSS, and congenital hypomyelination neuropathy. Her parents, grandmother and sister did not show the V136A mutation in Cx32. We report the first CMT patient with EGR2 and Cx32 mutations.