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ENMyopathy, Vacuolar, with Casq1 Aggregates (VMCQA)
Alias:
Myopathy Due to Calsequestrin and Serca1 Protein Overload
Vmcqa
Vacuolar Myopathy with Sarcoplasmic Reticulum Protein Aggregates
Vacuolar Aggregate Myopathy
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Myopathy, Vacuolar, with Casq1 Aggregates, also known as myopathy due to calsequestrin and serca1 protein overload, is related to myopathy and malignant hyperthermia, and has symptoms including muscle cramp and myalgia. An important gene associated with Myopathy, Vacuolar, with Casq1 Aggregates is CASQ1 (Calsequestrin 1). Related phenotypes are myopathy and elevated circulating creatine kinase concentration
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MALACARDS
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