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Article

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

Journal of medical genetics - 1 Mar 2015

Chae Jong Hee, Vasta Valeria, Cho Anna, Lim Byung Chan, Zhang Qing, Eun So Hee, Hahn Si Houn

Abstract excerpt

BACKGROUND: Neuromuscular disorders are a clinically, pathologically, and genetically heterogeneous group. Even for the experienced clinician, an accurate diagnosis is often challenging due to the complexity of these disorders. Here, we investigated the utility of next generation sequencing (NGS) in early diagnostic algorithms to improve the diagnosis for patients currently lacking precise molecular...

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PMID: 25635128
DOI: 10.1136/jmedgenet-2014-102819

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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