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Article

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

PloS one - 1 Jan 2017

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

Abstract excerpt

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 among populations and has been scantly described in Asia. METHODS: A total of 48 patients suspected to have CMD...

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Share to Antigens, Neoplasm
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28182637
DOI: 10.1371/journal.pone.0170517
PMCID: PMC5300266

Genes

LAMA2
LMNA
POMT1
TRAPPC11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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