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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.


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
  • ICD-11: 8C7Y
  • OMIM: 616231
  • UMLS: C4510368
  • MeSH: -
  • GARD: -
  • MedDRA: -
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