Takao, M

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