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Article

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Annals of neurology - 1 Feb 2015

Ankala Arunkanth, da Silva Cristina, Gualandi Francesca, Ferlini Alessandra, Bean Lora J H, Collins Christin, Tanner Alice K, Hegde Madhuri R

Abstract excerpt

OBJECTIVE: Neuromuscular diseases (NMDs) are a group of >200 highly genetically as well as clinically heterogeneous inherited genetic disorders that affect the peripheral nervous and muscular systems, resulting in gross motor disability. The clinical and genetic heterogeneities of NMDs make disease diagnosis complicated and expensive, often involving multiple tests. METHODS: To expedite the molecular diagnosis of...

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PMID: 25380242
DOI: 10.1002/ana.24303

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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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