Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

Orpha code: 88635OMIM code: 616231

Definition

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

Disease data
Classification

Disease

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

No additional description.

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