Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

BACKGROUND: Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atro...

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Detalles Bibliográficos
Autores principales: Liao, Yi-Chu, Liu, Yo-Tsen, Tsai, Pei-Chien, Chang, Chia-Ching, Huang, Yen-Hua, Soong, Bing-Wen, Lee, Yi-Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526224/
https://www.ncbi.nlm.nih.gov/pubmed/26244500
http://dx.doi.org/10.1371/journal.pone.0133423

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526224/
https://www.ncbi.nlm.nih.gov/pubmed/26244500
http://dx.doi.org/10.1371/journal.pone.0133423

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