期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 72, 期 5, 页码 1293-1299出版社
UNIV CHICAGO PRESS
DOI: 10.1086/375039
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资金
- NINDS NIH HHS [NS 26630, P01 NS026630] Funding Source: Medline
Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V. This is the first example of an aminoacyl tRNA synthetase being implicated in a human genetic disease, which makes genes that encode these enzymes relevant candidates for other inherited neuropathies and motor neuron diseases.
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