Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy. [electronic resource]
- Journal of neuropathology and experimental neurology Dec 2000
- 1070-86 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0022-3069
10.1093/jnen/59.12.1070 doi
Adult Central Nervous System--metabolism Epilepsies, Myoclonic--genetics Female Humans Male Microscopy, Electron Mutation--physiology Neurons--metabolism Neuropeptides--genetics Pedigree Serpins--genetics Neuroserpin