Central core disease (CCD) is an autosomal dominant congenital myopathy. It was first described by Shy and Magee in 1956. It is characterized by the appearance of the myofibril under the microscope.

PropertyValue
dbpedia-owl:Disease/emedicineSubject
  • neuro
dbpedia-owl:Disease/emedicineTopic
  • 76
dbpedia-owl:Disease/meshId
  • D020512
dbpedia-owl:Disease/omim
  • 117000
dbpedia-owl:emedicineSubject
  • neuro
dbpedia-owl:emedicineTopic
  • 76
dbpedia-owl:meshId
  • D020512
dbpedia-owl:omim
  • 117000
dbpedia-owl:thumbnail
dbpprop:abstract
  • Central core disease (CCD) is an autosomal dominant congenital myopathy. It was first described by Shy and Magee in 1956. It is characterized by the appearance of the myofibril under the microscope.
  • Als Central-Core-Myopathie (Central-Core-Krankheit, central core disease, CCD) wird eine seltene Muskelerkrankung aus der Gruppe der angeborenen Myopathien bezeichnet, die 1956 erstmals beschrieben wurde.
  • Choroba central core (ang. central core disease, CCD) – miopatia wrodzona spowodowana mutacją genu RYR1 kodującego białko receptora rianodynowego, o autosomalnym dominującym typie dziedziczenia.
dbpprop:caption
  • Histopathologic appearance of typical central core disease: NADH-TR, transverse section from the rectus femoris. Marked predominance of dark staining, high oxidative type 1 fibres with cores affecting the majority of fibres. Cores are typically well demarcated and centrally located (→), but may occasionally be multiple and of eccentric location.
dbpprop:dorlandsdictProperty
  • central core disease
  • three/000030637
dbpprop:emedicinesubj
  • neuro
dbpprop:emedicinetopic
  • 76 (xsd:integer)
dbpprop:icd10
dbpprop:image
  • Ccd.jpg
dbpprop:meshid
  • D020512
dbpprop:name
  • Central core disease
dbpprop:omim
  • 117000 (xsd:integer)
dbpprop:wikiPageUsesTemplate
dbpprop:wordnet_type
rdf:type
rdfs:comment
  • Central core disease (CCD) is an autosomal dominant congenital myopathy. It was first described by Shy and Magee in 1956. It is characterized by the appearance of the myofibril under the microscope.
  • Als Central-Core-Myopathie (Central-Core-Krankheit, central core disease, CCD) wird eine seltene Muskelerkrankung aus der Gruppe der angeborenen Myopathien bezeichnet, die 1956 erstmals beschrieben wurde.
  • Choroba central core (ang. central core disease, CCD) – miopatia wrodzona spowodowana mutacją genu RYR1 kodującego białko receptora rianodynowego, o autosomalnym dominującym typie dziedziczenia.
rdfs:label
  • Central core disease
  • Central-Core-Myopathie
  • Choroba central core
owl:sameAs
skos:subject
foaf:depiction
foaf:name
  • Central core disease
foaf:page
is dbpprop:redirect of