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KMID : 0357920040380010068
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Korean Journal of Pathology
2004 Volume.38 No. 1 p.68 ~ p.71
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Central Core Disease - A Case Report -
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Kim Ji-Hoon
Park Young-S.
Park Sung-Hye
Chi Je-Geun
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Abstract
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Central core disease is a rare autosomal dominantly inherited non-progressive congenital myopathy, which is pathologically characterized by the formation of a "core". We report a 28-year-old female with non-progressive muscle weakness, who had a hypotonic posture at birth. The developmental milestones were delayed with her first walking at 18 months of age. She could not run or walk a long distance and weight-bearing tasks were almost impossible. None of her family members showed motor symptoms. An investigation of the electromyography and nerve conduction velocity showed non-specific results. A gastrocnemius muscle biopsy revealed central cores in approximately 70% of myofibers with a type 1 myofiber predominance and deranged sarcolemmal structures. To the best of our knowledge, this is the fifth report of central core disease in the Korean literature.
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KEYWORD
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Myopathy, Central Core-Muscle, Skeletal-Ultrastructure
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