Journal
JOURNAL OF HUMAN GENETICS
Volume 54, Issue 5, Pages 310-312Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2009.25
Keywords
Charcot-Marie-Tooth neuropathy; CMT2; distal spinal muscular atrophy; GARS; glycyl-tRNA synthetase
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Funding
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Ministry of Health, Labour and Welfare of Japan
- Grants-in-Aid for Scientific Research [21591311] Funding Source: KAKEN
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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. Journal of Human Genetics (2009) 54, 310-312; doi:10.1038/jhg.2009.25; published online 27 March 2009
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