Desmin myopathy (Q84630)
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Desmin myopathy is a class of muscle disorders produced by abnormal desmin and characterised by a disorganisation of the desmin filament network, the accumulation of insoluble desmin-containing aggregates, and destructive changes in the sarcomeric organisation of striated muscles. The clinical phenotypes are heterogeneous, with progressive skeletal myopathy, cardiomyopathy, and respiratory insufficiency as the most prominent features. Most of the desmin mutations are autosomal dominant.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_190618985 |
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| English | Desmin myopathy |
Desmin myopathy is a class of muscle disorders produced by abnormal desmin and characterised by a disorganisation of the desmin filament network, the accumulation of insoluble desmin-containing aggregates, and destructive changes in the sarcomeric organisation of striated muscles. The clinical phenotypes are heterogeneous, with progressive skeletal myopathy, cardiomyopathy, and respiratory insufficiency as the most prominent features. Most of the desmin mutations are autosomal dominant. |
