Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

Orpha code: 88635OMIM code: 616231

Definicja

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

Disease data
Klasyfikacja

Disease

Synonimy
Myopathy due to calsequestrin and SERCA1 protein overload
Vacuolar aggregate myopathy
Myopathy due to calsequestrin and SERCA1 protein overload
Vacuolar aggregate myopathy
Kod ORPHA
88635
Kod OMIM
616231
Kod ICD10
G71.8
Kod ICD11
-

No additional description.

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