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KMID : 0361419940180040843
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Journal of Korean Academy of Rehabilitation Medicine
1994 Volume.18 No. 4 p.843 ~ p.848
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A Case Report of Central Core Disease
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Abstract
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We described the clinical features and electromyographic findings of one patient who had central core diseae, confirmed by muscle biopsy. This rare 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 muscle 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.
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KEYWORD
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