Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a patient with progressive myoclonus epilepsy (late-onset Lafora's disease). Onset was in early adult life, and death was at age fifty-four. The initial symptoms were epileptic seizures and progressive dementia, with later occurrence of myoclonus. Lafora bodies were ubiquitous and in neuronal perikarya in many areas. Dust-like granular bodies predominated in the neuropil of cerebral cortex, substantia nigra, and striatum. Abnormal deposits were also found in the myocardium.
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PMID:Late-onset Lafora's disease with typical intraneuronal inclusions. 817 May 76