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Article

Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 May 2018

Wu Lily, Brady Lauren, Shoffner John, Tarnopolsky Mark A

Abstract excerpt

BACKGROUND: Neuromuscular disorders are a phenotypically and genotypically diverse group of diseases that can be difficult to diagnose accurately because of overlapping clinical features and nonspecific muscle pathology. Next-generation sequencing (NGS) is a high-throughput technology that can be used as a more time- and cost-effective tool for identifying molecular diagnoses for complex genetic conditions, such...

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PMID: 29382405
DOI: 10.1017/cjn.2017.286

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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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