A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expr...

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Auteurs principaux: McLaughlin, Heather M., Sakaguchi, Reiko, Giblin, William, Wilson, Thomas E., Biesecker, Leslie, Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Lee, Yi-Chung, Kennerson, Marina, Hou, Ya-Ming, Nicholson, Garth, Antonellis, Anthony
Format: Artigo
Langue:Inglês
Publié: 2011
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3240693/
https://ncbi.nlm.nih.gov/pubmed/22009580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21635
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