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Article

Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy.

Nature reviews. Neurology - 1 Jan 2016

Angelini Corrado

Abstract excerpt

Whole-exome sequencing is a new tool for neuromuscular clinicians, and recent findings show that it improves the diagnosis of limb-girdle muscular dystrophy. The technique has a dual role as a tool for diagnosis and discovery in genetically heterogeneous neuromuscular diseases.

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Identifiers

PMID: 26670295
DOI: 10.1038/nrneurol.2015.230

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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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