期刊
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
卷 -, 期 -, 页码 -出版社
WILEY
DOI: 10.1111/jns.12353
关键词
aminoacyl transferase; Charcot-Marie-Tooth disease; CMT; HMN
资金
- Judy Seltzer Levenson Memorial Fund for CMT Research
- National Institute of Neurological Disorders and Stroke [NS108510, U54 NS065712]
- National Research Service Award (NRSA) from the National Institute of Neurological Diseases and Stroke
- Michigan Pre-doctoral Training in Genetics Program [GM007544]
- National Institute of General Medical Sciences [GM118647]
We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype - motor weakness that began in late childhood, distal weakness in the arms and legs, a motor greater than sensory neuropathy with slowing of motor and not sensory conduction velocities. A de novo mutation was proven in one patient and suspected in the other. The p.Gly327Arg GARS variant did not support yeast growth in a complementation assay, showing that this variant severely impairs protein function. Thus, the p.Gly327Arg GARS mutation causes a distal motor neuropathy.
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