Catalog

Myopathy with deficiency of sarcotubular calcium binding

No MMS code

Link to WHO Definition

Myopathy with deficiency of sarcotubular calcium binding – http://id.who.int/icd/entity/1600541463

Uncommon congenital myopathy pathologically characterised by isolated segmental vacuolation of the sarcotubular system (sarcoplasmic reticulum and transverse tubules). It is clinically characterised by muscle stiffness, cramps, with and without pain, and progressive impairment of muscle relaxation during exercise.