Ristić S, Marković D, Janko D, Kruzić M
Lijec Vjesn. 1989 Sep-Oct;111(9-10):301-4.
The present genetic study has been conducted on 29 patients with myotonic dystrophy. The diagnosis of Steinert-Batten-Gibbs disease was made by anamnestic, clinical and laboratory procedures. Six families from Istria were examined in which genealogical study was carried out through five generations. Consanguinity was observed in one family. The frequency of myotonic dystrophy, correlative features and mortality was determined for each family. The incidence of myotonic dystrophy and correlative features among the first-, second-, and third-degree relatives of patients examined was determined. We conclude that the disease occurred far more frequently in families of patients with myotonic dystrophy (8 to 33%) than in the population in general (0.017%) and that it is significantly maintained among the first-, second-, and third-degree relatives.
本基因研究针对29例强直性肌营养不良患者开展。通过既往史、临床及实验室检查确诊为斯坦纳特 - 巴滕 - 吉布斯病。对伊斯特拉的6个家族进行了检查，通过五代人进行了系谱研究。在一个家族中观察到近亲结婚情况。确定了每个家族中强直性肌营养不良的发病率、相关特征及死亡率。还确定了所检查患者的一级、二级和三级亲属中强直性肌营养不良及相关特征的发病率。我们得出结论，强直性肌营养不良在强直性肌营养不良患者家族中的发病频率（8%至33%）远高于普通人群（0.017%），且在一级、二级和三级亲属中显著延续。
