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

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dki-india-ID_1600541463
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Concluído
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16 August 2026
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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.
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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.

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      CID11:ID_1600541463
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      dki-india-ID_1600541463
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      Concluído
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      16 August 2026
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