Article
A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.
Muscle & nerve - 1 Dec 2010
Lin Pengfei, Mao Fei, Liu Qiji, Yang Wanling, Shao Changshun, Yan Chuanzhu, Gong Yaoqin
Abstract excerpt
X-linked Charcot-Marie-Tooth disease CMT (CMTX) is predominantly caused by mutations in the GJB1 gene that encode connexin32. We describe the clinical findings and the identification of a novel mutation in GJB1 in a large Han Chinese family with CMTX. Linkage to GJB1 was determined by genotyping five polymorphic markers flanking GJB1. Sequence alterations were determined by directly sequencing the coding region...
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