Vacuolar myopathy with CASQ1 aggregates (VMCQA) is an autosomal dominant benign vacuolar myopathy and hyperCKemia. VMCQA is the protein aggregate myopathy with benign evolution and muscle inclusions composed of excess CASQ1. Mutations in the CASQ1 gene have been found in patients with VMCQA.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C72 Congenital myopathies
H02320 Vacuolar myopathy with CASQ1 aggregates
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06528 Calcium signaling
H02320 Vacuolar myopathy with CASQ1 aggregates
Di Blasi C, Sansanelli S, Ruggieri A, Moriggi M, Vasso M, D'Adamo AP, Blasevich F, Zanotti S, Paolini C, Protasi F, Tezzon F, Gelfi C, Morandi L, Pessia M, Mora M
Title
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
