Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals
Biomarker and diagnostic research for caveolinopathy has been reported in the published literature.
No clinical trials have been registered for caveolinopathy.
114 publications have been identified in PubMed for caveolinopathy. Research spans Other (62%), Review / Meta-Analysis (12%), and Basic Science / Preclinical (8%).
Research Type | Count | % of Total |
|---|---|---|
Other research | 71 | 62% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
14 |
12% |
Laboratory research | 9 | 8% |
Testing and diagnosis research | 7 | 6% |
Disease patterns and progression | 7 | 6% |
Clinical study results | 5 | 4% |
Patient case studies | 1 | 1% |
Crilly C (2026). [PMID: 42079352](https://pubmed.ncbi.nlm.nih.gov/42079352/). *Br J Occup Ther*. [Review / Meta-Analysis]
Zhang T (2026). [PMID: 40506408](https://pubmed.ncbi.nlm.nih.gov/40506408/). *Journal of clinical nursing*. [Review / Meta-Analysis]
Hoffman RJ (2026). [PMID: 41592939](https://pubmed.ncbi.nlm.nih.gov/41592939/). *Arch Dis Child*. [Review / Meta-Analysis]
Zhou L (2026). [PMID: 41928070](https://pubmed.ncbi.nlm.nih.gov/41928070/). *Nurs Open*. [Review / Meta-Analysis]
Bashirov R (2026). [PMID: 42178473](https://pubmed.ncbi.nlm.nih.gov/42178473/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Meng Z (2026). [PMID: 41653002](https://pubmed.ncbi.nlm.nih.gov/41653002/). *Autism Res*. [Epidemiology / Natural History]
Farrell E (2026). [PMID: 41174242](https://pubmed.ncbi.nlm.nih.gov/41174242/). *International journal of obesity (2005)*. [Epidemiology / Natural History]
Solomons JS (2026). [PMID: 42045636](https://pubmed.ncbi.nlm.nih.gov/42045636/). *Psychon Bull Rev*. [Other]
Karaçor G (2026). [PMID: 41454488](https://pubmed.ncbi.nlm.nih.gov/41454488/). *Dent Traumatol*. [Other]
Renou S (2026). [PMID: 40763243](https://pubmed.ncbi.nlm.nih.gov/40763243/). *Menopause*. [Other]
AI-curated news mentioning caveolinopathy
Updated Aug 25, 2026
Research demonstrates that BIN1 overexpression can rescue cardiac defects in a mouse model of caveolinopathy, but does not improve skeletal muscle defects. This study provides insights into potential therapeutic targets for cardiac issues associated with caveolinopathy.