Myopathy with deficiency of sarcotubular calcium binding (Q103462)
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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 |
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| 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. |
