rippling muscle disease 2

Term ID

DOID:0060255

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. (2)

References

• GARD:9164
• OMIM:606072
• ORDO:265
• ORDO:97238
• SNOMEDCT_US_2023_03_01:709281006
• UMLS_CUI:C1853698

Ontology

Human Disease   ( DOID:0060255 )