Borkowska J
Neurol Neurochir Pol. 1980 Jul-Aug;14(4):345-52.
The results of an analysis of a group of 250 patients with acute and mild forms of x-linked dystrophy and of 184 women from their families seem to suggest a similar genetic defect in both forms of the disease. The posibility of intrafamilial variability, similar type of muscular damage and indentical features of heterozygotes may support this hypothesis. This may suggest also a practical conclusion for genetic counselling, that it is difficult to predict reliably what wall be the form of the disease in the sons of a female carrier of dystrophy gene.
对一组250例急性和轻度X连锁营养不良患者及其家族中184名女性的分析结果似乎表明,这两种疾病形式存在相似的基因缺陷。家族内变异性、相似类型的肌肉损伤以及杂合子的相同特征可能支持这一假设。这也可能为遗传咨询提供一个实际的结论,即很难可靠地预测携带营养不良基因的女性携带者的儿子会患何种形式的疾病。