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Article

Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.

Human molecular genetics - 15 May 2016

Griffin Danielle A, Johnson Ryan W, Whitlock Jarred M, Pozsgai Eric R, Heller Kristin N, Grose William E, Arnold W David, Sahenk Zarife, Hartzell H Criss, Rodino-Klapac Louise R

Abstract excerpt

Limb-girdle muscular dystrophies are a genetically diverse group of diseases characterized by chronic muscle wasting and weakness. Recessive mutations in ANO5 (TMEM16E) have been directly linked to several clinical phenotypes including limb-girdle muscular dystrophy type 2L and Miyoshi myopathy type 3, although the pathogenic mechanism has remained elusive. ANO5 is a member of the Anoctamin/TMEM16 superfamily...

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Source

Open in PubMed Open full text

Identifiers

PMID: 26911675
DOI: 10.1093/hmg/ddw063
PMCID: PMC5062581

Genes

ANO5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.PMID 26911675Read ↗

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