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Central core disease--a case report.

N H Myong·Y L Suh·J G Chi·Y S Hwang
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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.

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Child, PreschoolFemaleHumansMicroscopy, ElectronMusclesMuscular DiseasesCase ReportsJournal Article

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N H Myong, Y L Suh, J G Chi, Y S Hwang. 1993. Central core disease--a case report.. https://doi.org/10.3346/jkms.1993.8.3.235

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