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KMID : 1197720090020010050
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대한파킨슨병 및 이상운동질환 학회지
2009 Volume.2 No. 1 p.50 ~ p.52
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Adult Onset Familial Cherry-Red Spot Myoclonus
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Kim Chi-Kyung
Jeon Beom S.
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Abstract
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We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive inheritance pattern suggested that she had an unknown type of lysosomal storage disease.
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KEYWORD
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Cherry-red spot, Lysosomal storage disease, Myoclonus
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