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Article

Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Oct 2016

Chen Juanjuan, Zeng Wenshuang, Han Chunxi, Wu Jun, Zhang Haiou, Tong Xiaoxin

Abstract excerpt

Mutations in the gene encoding caveolin-3 (CAV3) can cause a broad spectrum of clinical phenotypes, including limb girdle muscular dystrophy, rippling muscle disease, distal myopathy (MD), idiopathic persistent elevation of serum creatine kinase and cardiomyopathy. MD is a relatively rare subtype of caveolinopathy. Here, we report a sporadic case of a middle-aged female Chinese patient with MD in which a CAV3...

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Source

Identifiers

PMID: 26947586
DOI: 10.1111/neup.12297

Genes

CAV3

Variants

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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