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JMD : Journal of Movement Disorders


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Chi Kyung Kim 1 Article
Adult Onset Familial Cherry-Red Spot Myoclonus
Chi Kyung Kim, Beom S. Jeon
J Mov Disord. 2009;2(1):50-52.
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AbstractAbstract PDF

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.

JMD : Journal of Movement Disorders