Back Bolest centralnog jezgra BS Central-Core-Myopathie German Myopathie congénitale à cores centraux French Miopatia congenita central core Italian セントラルコア病 Japanese Choroba central core Polish 肌中央軸空病 Chinese

Central core disease

Central Core Disease
Other namesCentral core myopathy
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.
SpecialtyNeurology Edit this on Wikidata

Central core disease (CCD), also known as central core myopathy, is an autosomal dominant inherited[1] muscle disorder present from birth that negatively affects the skeletal muscles. It was first described by Shy and Magee in 1956.[2][3] It is characterized by the appearance of the myofibril under the microscope.[4]

  1. ^ Robinson, Rl; Brooks, C; Brown, Sl; Ellis, Fr; Halsall, Pj; Quinnell, Rj; Shaw, Ma; Hopkins, Pm (August 2002). "RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes". Human Mutation. 20 (2): 88–97. doi:10.1002/humu.10098. PMID 12124989. S2CID 21497303.
  2. ^ Quinlivan RM, Muller CR, Davis M, et al. (2003). "Central core disease: clinical, pathological, and genetic features". Arch. Dis. Child. 88 (12): 1051–5. doi:10.1136/adc.88.12.1051. PMC 1719384. PMID 14670767.
  3. ^ Magee KR, Shy GM (1956). "A new congenital non-progressive myopathy". Brain. 79 (4): 610–21. CiteSeerX 10.1.1.1026.496. doi:10.1093/brain/79.4.610. PMID 13396066.
  4. ^ "central core disease" at Dorland's Medical Dictionary

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