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Article

Guidelines for genetic testing of muscle and neuromuscular junction disorders.

Muscle & nerve - 1 Sept 2021

Nicolau Stefan, Milone Margherita, Liewluck Teerin

Abstract excerpt

Despite recent advances in the understanding of inherited muscle and neuromuscular junction diseases, as well as the advent of a wide range of genetic tests, patients continue to face delays in diagnosis of sometimes treatable disorders. These guidelines outline an approach to genetic testing in such disorders. Initially, a patient's phenotype is evaluated to identify myopathies requiring directed testing,...

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PMID: 34133031
DOI: 10.1002/mus.27337

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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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