Swerts L, Van Den Bergh R
J Genet Hum. 1976 Sep;24(3):247-55.
The authors describe nine cases of amytrophic lateral sclerosis running through the same family for three successive generations. The transmission is autosomal dominant with complete penetrance. The clinical picture comprises specific characteristics, amongst which the age of onset and the absence of Achilles reflexes. The course of the disease is fatal before long.
作者描述了一个连续三代都有肌萎缩侧索硬化症患者的家族中的9个病例。其遗传方式为常染色体显性遗传，外显率完全。临床表现有一些特定特征，其中包括发病年龄和跟腱反射缺失。病程不久后即为致命性。
