Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing

BACKGROUND: We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. CASE REPORT: The affected individuals presented with slowly progressive proximal weakness and ankle contracture. They were i...

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Detalhes bibliográficos
Publicado no:J Clin Neurol
Main Authors: Park, Hyung Jun, Choi, Young-Chul, Kim, Seung Min, Kim, Se Hoon, Hong, Young Bin, Yoon, Bo Ram, Chung, Ki Wha, Choi, Byung-Ok
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Neurological Association 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4387485/
https://ncbi.nlm.nih.gov/pubmed/25749816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2015.11.2.183
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