Analysis on clinical phenotype and gene mutation of progressive myoclonic epilepsy: one case report.
Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclonic epilepsy (PME). Methods and Results The main clinical features of a 43-year-old man were photosensitive seizures, progressive cerebellar ataxia and peripheral neuropathy. Skeletal muscle biopsy sho...
| Publicado en: | Chinese Journal of Contemporary Neurology & Neurosurgery Vol. 18; no. 4; pp. 272 - 278 |
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| Autores principales: | , , , |
| Formato: | case study pictorial research tracings Journal Article |
| Publicado: |
Chinese Journal of Contemporary Neurology & Neurosurgery
Apr2018
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| Acceso en línea: | Ver este registro en EBSCOhost |