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Journal of the Korean Academy of Rehabilitation Medicine 1994;18(4):22.
A Case Report of Central Core Disease
Tai Ryoon Han, M.D., Nam Jong Paik, M.D., , Seong Jae Lee, M.D.,
Department of Rehabilitation Medicine, Seoul national University College of Medicine

and Literature Chonbuk National University

Central Core Disease 1례 -증례 보고-
한태륜, 백남종, 이성재
서울대학교 의과대학 재활의학교실

We described the clinical features and electromyographic findings of one patient who had central core disease, confirmed by music biopsy. This rate type of congenital myopathy is characterized by the formation of "cores" that consist of abnormal arrangement of myofibrils inside the myofibrils. Clinical features include non-progressive music weakness with delayed attainment of motor milestones. Electromyographic findings showed short-duration, polyphasic, low-amplitude motor unit action potentials and normal nerve conduction studies, compatible with primary myopathy. Gastrocnemius muscle biopsy showed definite central cores in sections with NADH-TR stain. Histochemistry revealed deficient or absent mitochondrial enzymes in the cores. Electron microscopy showed both structured and nonstructured cores.

Key Words: Central core disease, Congenital myopathy, Floppy infant, Muscle


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