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Article

Next generation sequencing for molecular diagnosis of neuromuscular diseases

17 Apr 2012

Abstract excerpt

Inherited neuromuscular disorders (NMD) are chronic genetic diseases posing a significant burden on patients and the health care system. Despite tremendous research and clinical efforts, the molecular causes remain unknown for nearly half of the patients, due to genetic heterogeneity and conventional molecular diagnosis based on a gene-by-gene approach. We aimed to test next generation sequencing (NGS) as an...

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PMID: 22526018
DOI: 10.1007/s00401-012-0982-8

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