Restrictive cardiomyopathy due to desminopathy (Q96350)
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Restrictive cardiomyopathy due to desminopathy is a restrictive cardiomyopathy due to the intermediate filament disorder associated with mutations in the closely interacting proteins, desmin and alphaB-crystallin. Additional information. The inheritance pattern may be autosomal dominant, autosomal recessive or sporadic. Typically, the illness presents with lower and later upper limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial and bulbar muscles, as well as cardiomyopathy and arrhythmias.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1183131753 |
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| English | Restrictive cardiomyopathy due to desminopathy |
Restrictive cardiomyopathy due to desminopathy is a restrictive cardiomyopathy due to the intermediate filament disorder associated with mutations in the closely interacting proteins, desmin and alphaB-crystallin. Additional information. The inheritance pattern may be autosomal dominant, autosomal recessive or sporadic. Typically, the illness presents with lower and later upper limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial and bulbar muscles, as well as cardiomyopathy and arrhythmias. |
