Term Name: rippling muscle disease 2
Synonyms: autosomal dominant limb-girdle muscular dystrophy type 1C
Definition: 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.
Ontology: Human Disease [DOID:0060255]   ( DOID:0060255 )

Relationships
is a type of: autosomal dominant disease muscle tissue disease