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Article

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.

Acta neuropathologica - 1 Feb 2013

Vasli Nasim, Laporte Jocelyn

Abstract excerpt

Neuromuscular disorders (NMD) such as neuropathy or myopathy are rare and often severe inherited disorders, affecting muscle and/or nerves with neonatal, childhood or adulthood onset, with considerable burden for the patients, their families and public health systems. Genetic and clinical heterogeneity, unspecific clinical features, unidentified genes and the implication of large and/or several genes requiring...

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Identifiers

PMID: 23224362
DOI: 10.1007/s00401-012-1072-7

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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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