Myopathy with deficiency of sarcotubular calcium binding (Q103462): Difference between revisions
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Miopatia congênita incomum patologicamente caracterizada por vacuolização segmentar isolada do sistema sarcotubular (retículo sarcoplasmático e túbulos transversos). É clinicamente caracterizada por rigidez muscular, cãibras, com e sem dor, e comprometimento progressivo do relaxamento muscular durante o exercício. | |||
| description / en | description / en | ||
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. | |||
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. |
