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myopathy due to calsequestrin and SERCA1 protein overload

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
Uniprot Description An autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase. The disorder is not progressive, and some patients may be asymptomatic.
Mondo Term and Equivalent IDs
MONDO:0014546:  myopathy due to calsequestrin and SERCA1 protein overload
Orphanet:88635: 
SCTID:724095006: 
UMLS:C4015624: 
UMLS:C4510368: