Myopathy with deficiency of sarcotubular calcium binding (Q103462): Difference between revisions

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Latest revision as of 09:13, 17 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1600541463
English	Myopathy with deficiency of sarcotubular calcium binding	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.