Article
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.
Journal of human genetics - 1 May 2009
Abe Akiko, Hayasaka Kiyoshi
Abstract excerpt
Charcot-Marie-Tooth neuropathy (CMT) is an extremely common but heterogeneous inherited neuropathy. It has been classified into two forms: demyelinating and axonal. The dominant axonal form, CMT2, has been further subdivided through linkage study and 15 loci and 10 genes have been reported. For the glycyl-tRNA synthetase (GARS) gene, a CMT2-causing gene, 10 mutations have been reported to date. We studied the...
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