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
MONDO:0003939
muscle tissue disorder
is_a
MONDO:0016139
qualitative or quantitative protein defects in neuromuscular diseases
is_a
MONDO:0100545
hereditary neurological disease
is_a
qualitative or quantitative defects of caveolin-3
exact