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Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

ORPHA:88635· ICD-10 G71.8

Definition

A rare, genetic vacuolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant, Unknown
Age of onset
Adult