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J Hum Genet. 2009 May;54(5):310-2. doi: 10.1038/jhg.2009.25. Epub 2009 Mar 27.

The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.

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Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.


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 GARS in 89 Japanese patients with axonal CMT and detected a novel heterozygous Pro244Leu (c.893C>T) mutation in a patient showing adolescent onset and early upper limb involvement. Results of our study indicate that GARS mutation is a rare cause of CMT2 among Japanese patients.

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