Autosomal dominant genetic disorder
Medical condition
Central Core Disease Other names Central 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. Specialty Neurology
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]
^ 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 .
^ 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 .
^ 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 .
^ "central core disease" at Dorland's Medical Dictionary