Diseases title

Myopathy due to calsequestrin and SERCA1 protein overload )

Orpha Number: 88635

This syndrome is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. It has been described in four individuals from different families. This myopathy is associated with an excess of the sarcoplasmic reticulum proteins, SERCA1 and calsequestrin.
source: Orphanet