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Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Disease definition
A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
ORPHA:88635
Classification level: Disorder- Synonym(s):
- Myopathy due to calsequestrin and SERCA1 protein overload
- Vacuolar aggregate myopathy
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown or Autosomal dominant
- Age of onset: -
- ICD-10: G71.8
- OMIM: 616231
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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