rippling muscle disease 2
Findings
No curated finding names rippling muscle disease 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.
Definition from the Mondo Disease Ontology (MONDO:0019947), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Calf muscle hypertrophyHPOHP:0008981
- 8 of 8 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 8 of 8 reported patients
- Gowers signHPOHP:0003391
- 4 of 4 reported patients · Adult onset
- Proximal muscle weaknessHPOHP:0003701
- 8 of 8 reported patients
- Exercise-induced muscle crampsHPOHP:0003710
- 2 of 8 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CAV3HGNC:1529
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
9 names
Resolves to: rippling muscle disease 2
- Also called
- autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3CAV3 autosomal dominant limb-girdle muscular dystrophyCAV3 rippling muscle diseaseLGMD1Climb-girdle muscular dystrophy due to caveolin-3 deficiencymuscular dystrophy limb-girdle type ICrippling muscle disease caused by mutation in CAV3rippling muscle disease type 2RMD2