Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan

PURPOSE: Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable. This study aims to analyze the phenotypes and genotypes of Taiwanese patients with CMD as the epidemiology of CMD varies...

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Detalles Bibliográficos
Autores principales: Liang, Wen-Chen, Tian, Xia, Yuo, Chung-Yee, Chen, Wan-Zi, Kan, Tsu-Min, Su, Yi-Ning, Nishino, Ichizo, Wong, Lee-Jun C., Jong, Yuh-Jyh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300266/
https://www.ncbi.nlm.nih.gov/pubmed/28182637
http://dx.doi.org/10.1371/journal.pone.0170517

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300266/
https://www.ncbi.nlm.nih.gov/pubmed/28182637
http://dx.doi.org/10.1371/journal.pone.0170517

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