DISEASES

Disease-gene associations mined from literature

Human genes for rippling muscle disease 2

Rippling muscle disease 2 [DOID:0060255]

A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

Synonyms:  rippling muscle disease 2,  DOID:0060255,  autosomal dominant limb-girdle muscular dystrophy type 1C,  autosomal dominant limbgirdle muscular dystrophy type 1C