Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is caused by mutations in the gene encoding phosphoribosyl pyrophosphate synthetase I (PRPS1). There has been only one case report of CMTX5 patients. The aim of this study was to identify the causative gene in a family with CMTX with pe...

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Main Authors: Park, Jin, Hyun, Young Se, Kim, Ye Jin, Nam, Soo Hyun, Kim, Sung-hee, Hong, Young Bin, Park, Jin-Mo, Chung, Ki Wha, Choi, Byung-Ok
Formato: Artigo
Idioma:Inglês
Publicado: Korean Neurological Association 2013
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3840141/
https://ncbi.nlm.nih.gov/pubmed/24285972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2013.9.4.283
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