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Adult Onset Familial Cherry-Red Spot Myoclonus

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 l...

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Detalles Bibliográficos
Autores principales: Kim, Chi Kyung, Jeon, Beom S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027691/
https://www.ncbi.nlm.nih.gov/pubmed/24868356
http://dx.doi.org/10.14802/jmd.09014