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Article

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jan 2012

Milone Margherita, Liewluck Teerin, Winder Thomas L, Pianosi Paolo T

Abstract excerpt

Anoctamin 5 and dysferlin mutations can result in myopathies with similar clinical phenotype. Amyloid deposits can occur in the muscle of patients with dysferlinopathy. We describe a 53-year-old woman with exercise intolerance since childhood, recurrent rhabdomyolysis and late-onset weakness. Muscle biopsy showed amyloid deposits within the blood vessel walls and around muscle fibers. Mutation analysis identified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21820307
DOI: 10.1016/j.nmd.2011.07.005

Genes

ANO5

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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