期刊
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
卷 17, 期 1, 页码 132-134出版社
WILEY
DOI: 10.1111/j.1529-8027.2012.00370.x
关键词
anticodon-binding domain; CMT2D; dSMA V; GARS; glycine aminoacyl tRNA synthetase
资金
- Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (MDCRC) from the National Institutes of Health (Bethesda, MD) [NIH U54 NS053672]
Mutations in the GARS gene cause Charcot-Marie-Tooth 2D and distal spinal muscular atrophy type V allelic disorders characterized by predominantly distal upper extremity weakness and atrophy, typically beginning during the second decade of life. We report monozygotic twin girls with onset of weakness in infancy and a previously reported GARS mutation within the anticodon-binding domain. The severity and remarkable similarity in phenotypes of these girls and the reported case suggest that mutations within the anticodon-binding domain are more damaging to aminoacyl tRNA synthetase function than those within other domains of GARS.
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