Article
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
American journal of human genetics - 4 Sept 2014
Tamiya Gen, Makino Satoshi, Hayashi Makiko, Abe Akiko, Numakura Chikahiko, Ueki Masao, Tanaka Atsushi, Ito Chizuru, Toshimori Kiyotaka, Ogawa Nobuhiro, Terashima Tomoya, Maegawa Hiroshi, Yanagisawa Daijiro, Tooyama Ikuo, Tada Masayoshi, Onodera Osamu, Hayasaka Kiyoshi
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy characterized by clinical and genetic heterogeneity. Although more than 30 loci harboring CMT-causing mutations have been identified, many other genes still remain to be discovered for many affected individuals. For two consanguineous families with CMT (axonal and mixed phenotypes), a parametric linkage analysis using genome-wide SNP chip...
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