Preferred Label : Myopathy with deficiency of sarcotubular calcium binding;
ICD-11 definition : Uncommon congenital myopathy pathologically characterized by isolated segmental vacuolation
of the sarcotubular system (sarcoplasmic reticulum and transverse tubules). It is
clinically characterized by muscle stiffness, cramps, with and without pain, and progressive
impairment of muscle relaxation during exercise.;
ICD-11 synonym : Brody myopathy;
Origin ID : 1600541463;
Automatic exact mappings (from CISMeF team)
Uncommon congenital myopathy pathologically characterized by isolated segmental vacuolation
of the sarcotubular system (sarcoplasmic reticulum and transverse tubules). It is
clinically characterized by muscle stiffness, cramps, with and without pain, and progressive
impairment of muscle relaxation during exercise.