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Up to: Hereditary neurological disease · Muscle tissue disorder · Qualitative or quantitative protein defects in neuromuscular diseases
Caveolinopathy
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