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Article

A new distal myopathy with mutation in anoctamin 5.

Neuromuscular disorders : NMD - 1 Dec 2010

Mahjneh Ibrahim, Jaiswal Jyoti, Lamminen Antti, Somer Mirja, Marlow Gareth, Kiuru-Enari Sari, Bashir Rumaisa

Abstract excerpt

We have been following clinically and with muscle MRI for the past 3-decades a Finnish family with two patients with distal muscular dystrophy. Previously we demonstrated the cellular defect in these patients to be defective membrane repair and more recently have identified the causative gene to be anoctamin 5 (ANO5). The disorder seen in these patients is characterized by onset in the third decade. First...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20692837
DOI: 10.1016/j.nmd.2010.07.270
PMCID: PMC4206776

Genes

ANO5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A new distal myopathy with mutation in anoctamin 5.PMID 20692837Read ↗

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