[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.
Gualandri
V
V
Université de Milan, Faculté de Médecine et Chirurgie, Chaire de Génétique Humaine, Milano Italie.
Montagnani
A
A
Bevilacqua
L
L
Rota
E
E
Orsini
G B
GB
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.