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Article

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.

Muscle & nerve - 1 Oct 2014

Lahoria Rajat, Winder Thomas L, Lui Jie, Al-Owain Mohammed A, Milone Margherita

Abstract excerpt

INTRODUCTION: Recessive mutations in the anoctamin-5 gene (ANO5) cause a spectrum of clinical phenotypes, including limb-girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia. METHODS: In this report we describe our clinical, electrophysiological, pathological, and molecular findings in a subject with anoctaminopathy-5. RESULTS: A 49-year-old Arabic man from a consanguineous family...

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Source

Identifiers

PMID: 24889862
DOI: 10.1002/mus.24302

Genes

ANO5

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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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