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Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations
Charcot-Marie-Tooth disease type 2D (CMT2D) is an autosomal dominant axonal peripheral neuropathy characterized by impaired motor and sensory function in the distal extremities. Mutations in the glycyl-tRNA synthetase (GARS) gene cause CMT2D. GARS is a member of the ubiquitously expressed aminoacyl-...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4213347/ https://ncbi.nlm.nih.gov/pubmed/25168514 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22681 |
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