一例父系遗传的先天性肌强直性营养不良病例。

Nakagawa M, Yamada H, Higuchi I, Kaminishi Y, Miki T, Johnson K, Osame M

Third Department of Internal Medicine, Kagoshima University, Japan.

J Med Genet. 1994 May;31(5):397-400. doi: 10.1136/jmg.31.5.397.

We report two sisters with congenital myotonic dystrophy (CDM) born to a normal mother and an affected father. The congenitally affected daughters had symptoms from birth. The age of onset of DM in the father was 39 years. Analysis of the CTG trinucleotide expansion in this family showed increase in the repeat length with increasing severity, with the smallest expansion in the grandfather and the largest expansion in the younger of the two CDM sisters. This family shows that exceptionally it is possible for CDM to be inherited paternally and refutes the hypothesis that CDM is exclusively of maternal origin. This contradicts several of the previous hypotheses concerning the mechanisms by which the CDM phenotype arises.

我们报告了两姐妹患有先天性肌强直性营养不良（CDM），她们的母亲正常，父亲患病。这两个先天性患病的女儿自出生就有症状。父亲患强直性肌营养不良（DM）的发病年龄为39岁。对这个家族的CTG三核苷酸重复序列分析显示，随着病情加重重复长度增加，祖父的重复序列扩展最小，两个CDM姐妹中较小的那个重复序列扩展最大。这个家族表明，CDM异常地有可能通过父系遗传，这反驳了CDM仅源于母系的假说。这与之前关于CDM表型产生机制的几个假说相矛盾。