Vacuolar myopathy with CASQ1 aggregates
Definition:
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.
References:
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[1]. Claudia Di Blasi, et al. A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia. J Med Genet. 2015 Sep;52(9):617-26. [Content Brief]
[2]. Daniela Rossi, et al. A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. Hum Mutat. 2014 Oct;35(10):1163-70. [Content Brief]
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