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 |
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| 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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