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About: Desmin-related myofibrillar myopathy     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:State100024720, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseaseyago:Abstraction100002137yago:Attribute100024264yago:Condition113920835yago:Disease114070360yago:GeneticDisease114151139yago:IllHealth114052046yago:Illness114061805yago:PathologicalState114051917yago:PhysicalCondition114034177yago:WikicatGeneticDisordersdiseaseethnic groupyago:State100024720 New Facet based on Instances of this Class

Desmin-related myofibrillar myopathy, is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein filaments, instead forming aggregates of desmin and other proteins throughout the cell.