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

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2002

Merlini L, Carbone I, Capanni C, Sabatelli P, Tortorelli S, Sotgia F, Lisanti M P, Bruno C, Minetti C

Abstract excerpt

An 18 year old man and his mother both presented with persistent, isolated raised serum creatine kinase (hyperCKaemia) without muscle symptoms. Analysis of caveolin-3 protein expression in muscle biopsy of the propositus showed a reduction in the protein. Genetic analysis revealed a new heterozygous mutation in the caveolin-3 (CAV-3) gene: a C-->T transition at nucleotide position 83 in exon 1 leading to a...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Caveolin 3

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Caveolins

Share to Creatine Kinase

Share to Leucine

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Proline

Source

Open in PubMed Open full text

Identifiers

PMID: 12082049
DOI: 10.1136/jnnp.73.1.65
PMCID: PMC1757305

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.PMID 12082049Read ↗

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.Semantic proximity Read ↗

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.Semantic proximity Read ↗

Phenotypic variability in a Spanish family with a Caveolin-3 mutation.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 ↗

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

CAV3 gene sequence variations: National Genome Database and clinics.Semantic proximity Read ↗

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

Familial Hyperckemia and Calf Hypertrophy Secondary to a Caveolin-3 Mutation.Semantic proximity Read ↗

Myotonia associated with caveolin-3 mutation.Semantic proximity Read ↗

CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.Semantic proximity Read ↗

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.Semantic proximity Read ↗

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