Gualandri V, Montagnani A, Bevilacqua L, Rota E, Orsini G B
Université de Milan, Faculté de Médecine et Chirurgie, Chaire de Génétique Humaine, Milano Italie.
Rev Neurol (Paris). 1987;143(11):759-60.
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.
报道了一个患有原发性遗传性肌阵挛的大家庭。介绍了症状和体征、临床发病年龄及病情发展情况。该疾病为常染色体显性遗传，且具有完全外显率。
