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KMID : 0191119930080030235
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Journal of Korean Medical Science
1993 Volume.8 No. 3 p.235 ~ p.240
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Central core disease -a case report -
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Myong NH
Suh YL/Chi JG/Hwang YS
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Abstract
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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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KEYWORD
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