" /> Myopathy with deficiency of sarcotubular calcium binding - CISMeF





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;

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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.

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18/06/2025


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