Desmin myopathy (Q84630): Difference between revisions

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Latest revision as of 09:58, 15 August 2026

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
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.