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Article

ANO5-muscular dystrophy: clinical, pathological and molecular findings.

European journal of neurology - 1 Oct 2013

Liewluck T, Winder T L, Dimberg E L, Crum B A, Heppelmann C J, Wang Y, Bergen H R, Milone M

Abstract excerpt

BACKGROUND AND PURPOSE: Anoctamin 5 (ANO5) is a putative intracellular calcium-activated chloride channel. Recessive mutations in ANO5 cause primary skeletal muscle disorders (limb-girdle muscular dystrophy 2L and distal muscular dystrophy), which are phenotypically similar to dysferlinopathy, a muscular dystrophy due to dysferlin-encoding gene (DYSF) mutations. METHODS: This study reports the phenotype and...

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Source

Identifiers

PMID: 23663589
DOI: 10.1111/ene.12191

Genes

ANO5
DYSF

Provenance

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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