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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Autores principales: Griffin, Laurie B., Sakaguchi, Reiko, McGuigan, David, Gonzalez, Michael A., Searby, Charles, Züchner, Stephan, Hou, Ya-Ming, Antonellis, Anthony
Formato: Artigo
Lenguaje:Inglês
Publicado: 2014
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Article
Acceso en línea: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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