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Article

Next-generation sequencing in neuromuscular diseases

9 Aug 2016

Abstract excerpt

PURPOSE OF REVIEW: Neuromuscular diseases are clinically and genetically heterogeneous and probably contain the greatest proportion of causative Mendelian defects than any other group of conditions. These disorders affect muscle and/or nerves with neonatal, childhood or adulthood onset, with significant disability and early mortality. Along with heterogeneity, unidentified and often very large genes require...

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PMID: 27588584
DOI: 10.1097/wco.0000000000000374

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