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Article

Molecular diagnosis of myopathies.

Rheumatic diseases clinics of North America - 1 May 2011

Gomez-Vargas Andrew, Baker Steven K

Abstract excerpt

Neuromuscular diseases (NMD) constitute a group of phenotypically and genetically heterogeneous disorders, characterized by (progressive) weakness and atrophy of proximal and/or distal muscles. The objective of molecular testing is to confirm the pathogenicity of a relevant sequence variation by correlating an individual's phenotype with what is expected in a given condition. Within the last two decades the...

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PMID: 21444025
DOI: 10.1016/j.rdc.2011.01.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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