Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.

American journal of physiology. Cell physiology - 1 Nov 2003

Sotgia Federica, Woodman Scott E, Bonuccelli Gloria, Capozza Franco, Minetti Carlo, Scherer Philipp E, Lisanti Michael P

Abstract excerpt

Four different phenotypes have been associated with CAV3 mutations: limb girdle muscular dystrophy-1C (LGMD-1C), rippling muscle disease (RMD), and distal myopathy (DM), as well as idiopathic and familial hyperCKemia (HCK). Detailed molecular characterization of two caveolin-3 mutations (P104L and DeltaTFT), associated with LGMD-1C, shows them to impart a dominant-negative effect on wild-type caveolin-3,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to NIH 3T3 Cells
Share to Caveolin 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Caveolins

Share to Creatine Kinase

Share to Glutamine

Share to Muscle Proteins

Share to Muscular Diseases

Share to Muscular Dystrophies

Source

Identifiers

PMID: 12839838
DOI: 10.1152/ajpcell.00166.2003

Genes

HCK
CAV3

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.PMID 12839838Read ↗

Caveolinopathies: from the biology of caveolin-3 to human diseases.Semantic proximity Read ↗

Consequences of a novel caveolin-3 mutation in a large German family.Semantic proximity Read ↗

Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.Semantic proximity Read ↗

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.Semantic proximity Read ↗

Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders.Semantic proximity Read ↗

Molecular and muscle pathology in a series of caveolinopathy patients.Semantic proximity Read ↗

Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex.Semantic proximity Read ↗

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.Semantic proximity Read ↗

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.Semantic proximity Read ↗

Biochemical and pathological changes result from mutated Caveolin-3 in muscle.Semantic proximity Read ↗

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.Semantic proximity Read ↗

A new missense mutation in caveolin-3 gene causes rippling muscle disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.