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.
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
タイトル
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
