Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Central_core_disease_of_muscle> ?p ?o }
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- Central_core_disease_of_muscle abstract "Central core disease of muscle (CCD, CCO), also known as multicore myopathy, multiminicore disease and congenital neuromuscular disease with uniform type 1 fibers (CNMDU1), is a rare myopathy disorder characterised by \"early onset of symptoms, mild proximal weakness, hyporeflexia or areflexia, normal serum muscle enzyme levels, short duration of motor unit potentials, uniform type 1 fibers, and nonprogression\". The disease has a mild and non-progressive course and usually manifests by weakness of hands.The disease has been associated with a genetic mutation in the RYR1 gene.As with the majority of neuromuscular diseases, there is no known cure to CCD.Central core disease of muscle was first described in 1956 by G. M. Shy and K. R. Magee. \"Congenital neuromuscular disease with uniform type 1 fibers\", only recently identified with CCD, was described by Japanese neurologists Y. Une and H. Haraguchi in 1980.".
- Central_core_disease_of_muscle omim "117000".
- Central_core_disease_of_muscle wikiPageID "40287036".
- Central_core_disease_of_muscle wikiPageLength "3550".
- Central_core_disease_of_muscle wikiPageOutDegree "9".
- Central_core_disease_of_muscle wikiPageRevisionID "678496063".
- Central_core_disease_of_muscle wikiPageWikiLink Anatomical_terms_of_location.
- Central_core_disease_of_muscle wikiPageWikiLink Category:Muscular_disorders.
- Central_core_disease_of_muscle wikiPageWikiLink Hyporeflexia.
- Central_core_disease_of_muscle wikiPageWikiLink Motor_unit.
- Central_core_disease_of_muscle wikiPageWikiLink Mutation.
- Central_core_disease_of_muscle wikiPageWikiLink Myocyte.
- Central_core_disease_of_muscle wikiPageWikiLink Myopathy.
- Central_core_disease_of_muscle wikiPageWikiLink RYR1.
- Central_core_disease_of_muscle wikiPageWikiLinkText "Central core disease of muscle".
- Central_core_disease_of_muscle wikiPageUsesTemplate Template:Infobox_disease.
- Central_core_disease_of_muscle wikiPageUsesTemplate Template:Merge_to.
- Central_core_disease_of_muscle wikiPageUsesTemplate Template:Musculoskeletal-disease-stub.
- Central_core_disease_of_muscle wikiPageUsesTemplate Template:Orphan.
- Central_core_disease_of_muscle wikiPageUsesTemplate Template:Reflist.
- Central_core_disease_of_muscle subject Category:Muscular_disorders.
- Central_core_disease_of_muscle hypernym Disorder.
- Central_core_disease_of_muscle type Disease.
- Central_core_disease_of_muscle type Thing.
- Central_core_disease_of_muscle type Q12136.
- Central_core_disease_of_muscle comment "Central core disease of muscle (CCD, CCO), also known as multicore myopathy, multiminicore disease and congenital neuromuscular disease with uniform type 1 fibers (CNMDU1), is a rare myopathy disorder characterised by \"early onset of symptoms, mild proximal weakness, hyporeflexia or areflexia, normal serum muscle enzyme levels, short duration of motor unit potentials, uniform type 1 fibers, and nonprogression\".".
- Central_core_disease_of_muscle label "Central core disease of muscle".
- Central_core_disease_of_muscle sameAs Q16858664.
- Central_core_disease_of_muscle sameAs m.0wxqz9x.
- Central_core_disease_of_muscle sameAs Q16858664.
- Central_core_disease_of_muscle wasDerivedFrom Central_core_disease_of_muscle?oldid=678496063.
- Central_core_disease_of_muscle isPrimaryTopicOf Central_core_disease_of_muscle.