has material basis in germline mutation in disease has basis in dysfunction of CAV3 caveola muscle tissue disorder qualitative or quantitative protein defects in neuromuscular diseases caveolinopathy https://www.malacards.org/card/qualitative_or_quantitative_defects_of_caveolin_3 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 MONDO:0016146 GARD:0020394 qualitative or quantitative defects of caveolin-3 UMLS:C5679790 MEDGEN:1826055 Orphanet:207078 hereditary neurological disease