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

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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.
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ID_1600541463
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    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.

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      CID11:ID_1600541463
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      dki-india-ID_1600541463
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