title: Central core disease--a case report.
abstract: Central core disease is a rare congenital myopathy characterized by the formation of "cores" that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gastrocnemius muscle biopsy showed central cores in over 80% of the fibers on H&E section. Histochemistry revealed deficient or absent mitochondrial enzyme in the cores and type I predominance. Ultrastructurally both structured and non-structured cores were found separately or simultaneously in one fiber. This case is the first report in the Korean literature.
authors.affiliation: Department of Pathology, Seoul National University, Korea.
authors.forename: N H
authors.initials: NH
authors.lastname: Myong
authors.forename: Y L
authors.initials: YL
authors.lastname: Suh
authors.forename: J G
authors.initials: JG
authors.lastname: Chi
authors.forename: Y S
authors.initials: YS
authors.lastname: Hwang
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology*