Keyword
Desmin-related myopathy
| Definition | Protein which, if defective, causes desmin-related myopathy (DRM), a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin [MIM:125660], usually accompanied by other protein aggregates. Both autosomal dominant and autosomal recessive inheritance have been reported. Approximately one-third of DRMs are thought to be caused by mutations in the desmin gene. |
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| Category |
› Disease
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