Central core disease
Også kjent som: Central core myopati, medfødt myopati, Congenital myopathy "central cores" (myofibrilliar)
Engelsk navn: Central core disease
Definisjon
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.
Fra Orphanet
ORPHA: 597
Klassifiseringsnivå: Disorder
ICD-10: G71.2