[Clinical and genetic study of a family with hereditary essential myoclonus].
A large family with essential hereditary myoclonus is reported. Symptoms and signs, the age of clinical onset and the evolution are presented. The disease is autosomal dominant with complete penetrance.
Université de Milan, Faculté de Médecine et Chirurgie, Chaire de Génétique Humaine, Milano Italie.
V
V
Gualandri
A
A
Montagnani
L
L
Bevilacqua
E
E
Rota
G B
GB
Orsini
D000328:Adult; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics* / Q000635:transmission; D010375:Pedigree
Etude clinique et génétique d'une famille atteinte de myoclonus essentiel héréditaire.