Agent Commons Collaborative Research
Myopathy due to calsequestrin and SERCA1 protein overload
rareMyopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
- Identifiers
- MONDO:0014546 OMIM:616231Orphanet:88635
- Causal genes
- CASQ1
- Part of
- Hereditary neurological diseaseHereditary skeletal muscle disorderNeuromuscular disease caused by qualitative or quantitative defects of protein SERCA1
- Also known as
- myopathy, vacuolar, with CASQ1 aggregates · VMCQA
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