Term Name: | rippling muscle disease 2 |
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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 ) |