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http://purl.uniprot.org/keywords/1060http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Concept
http://purl.uniprot.org/keywords/1060http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/core/Concept
http://purl.uniprot.org/keywords/1060http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/keywords/9995
http://purl.uniprot.org/keywords/1060http://www.w3.org/2000/01/rdf-schema#comment"Protein which, if defective, causes myofibrillar myopathy, a group of morphologically homogeneous, but genetically heterogeneous neuromuscular disorders. The morphologic changes in skeletal muscle result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc. Clinical manifestations are variable and can involve the skeletal, cardiac and smooth muscle."xsd:string
http://purl.uniprot.org/keywords/1060http://www.w3.org/2004/02/skos/core#prefLabel"Myofibrillar myopathy"xsd:string
http://purl.uniprot.org/keywords/1060http://www.w3.org/2004/02/skos/core#narrowerhttp://purl.uniprot.org/keywords/911
http://purl.uniprot.org/keywords/1060http://purl.uniprot.org/core/categoryhttp://purl.uniprot.org/keywords/9995
http://purl.uniprot.org/keywords/911http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/keywords/1060
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