Matsumura R, Namikawa T, Miki T, Kihira T, Yamagata H, Mano Y, Takayanagi T
Department of Neurology, Nara Medical University, Japan.
J Neurol Sci. 1996 Jul;139(1):48-51.
We present the first report of a Japanese family with myotonic dystrophy (DM) that showed an intergenerational contraction of the CTG repeat. The size of the expanded CTG repeats was 3.2 kb for the father and 2.2 kb for the daughter, indicating that the expansion decreased during transmission from the father to the daughter. Despite the CTG repeat contraction, the daughter showed earlier age of onset than the father. However, she appeared to be less severely affected than the father. We discuss the correlation between the CTG repeat contraction and the clinical phenotype. The presence of the CTG repeat contraction in Japanese DM is important for genetic counseling of Japanese DM families.
我们报告了首例患有强直性肌营养不良（DM）的日本家族，该家族显示出CTG重复序列的代际收缩。父亲的CTG重复序列扩增大小为3.2 kb，女儿的为2.2 kb，这表明从父亲传给女儿的过程中扩增有所减少。尽管CTG重复序列收缩，但女儿的发病年龄比父亲更早。然而，她的病情似乎比父亲轻。我们讨论了CTG重复序列收缩与临床表型之间的相关性。日本DM中CTG重复序列收缩的存在对于日本DM家族的遗传咨询很重要。
