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, 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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| Graphical | 
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