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Article

CAV3 mutation in a patient with transient hyperCKemia and myalgia.

Neurologia i neurochirurgia polska - 1 Jan 2000

Macias Anna, Gambin Tomasz, Szafranski Przemyslaw, Jhangiani Shalini N, Kolasa Anna, Obersztyn Ewa, Lupski James R, Stankiewicz Pawel, Kaminska Anna

Abstract excerpt

Mutations in caveolin-3 (CAV3) can lead to different clinical phenotypes affecting skeletal or cardiac muscles. Here, we describe a patient with Klinefelter syndrome, ulcerative colitis and Sjögren syndrome, who developed transient hyperCKemia, myalgia and mild muscular weakness. Using whole exome sequencing (WES), a missense mutation G169A was found in the CAV3 gene. In addition, we identified a homozygous...

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Source

Identifiers

PMID: 27772553
DOI: 10.1016/j.pjnns.2016.06.008

Genes

CAV3

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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