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Article

An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders.

American journal of medical genetics. Part A - 1 Nov 2023

Rosenberg Amanda, Tian Cuixia, He Hua, Ulm Elizabeth, Collins Ruff Kathleen, B Nagaraj Chinmayee

Abstract excerpt

Inherited neuromuscular disorders (NMDs) are a large group of genetic conditions characterized by impaired peripheral nerve, motor neuron, neuromuscular junction, or skeletal muscle function. These conditions are also known to have clinical and genetic heterogeneity and variable ages of onset. Clinical evaluation for NMDs has increasingly incorporated molecular genetics. However, genetic testing is complicated by...

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Identifiers

PMID: 37503964
DOI: 10.1002/ajmg.a.63356

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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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