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Article

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

29 Jun 2017

Abstract excerpt

PURPOSE OF REVIEW: The development of massively parallel sequencing (MPS) has revolutionized molecular genetic diagnostics in monogenic disorders. The present review gives a brief overview of different MPS-based approaches used in clinical diagnostics of neuromuscular disorders (NMDs) and highlights their advantages and limitations. RECENT FINDINGS: MPS-based approaches like gene panel sequencing, (whole) exome...

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PMID: 28665809
DOI: 10.1097/wco.0000000000000478

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