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Article

Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders

23 Jul 2016

Abstract excerpt

PURPOSE OF REVIEW: The development of next-generation sequencing (NGS) technologies is transforming the practice of medical genetics and revolutionizing the approach to heterogeneous hereditary conditions, including skeletal muscle disorders. Here, we review the different NGS approaches described in the literature so far for the characterization of myopathic patients and the results obtained from the...

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PMID: 27454578
DOI: 10.1097/wco.0000000000000371

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