Thornton C A, Griggs R C, Moxley R T
Neuromuscular Disease Center, University of Rochester School of Medicine and Dentistry, NY 14620.
Ann Neurol. 1994 Mar;35(3):269-72. doi: 10.1002/ana.410350305.
We report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and testicular atrophy with myotonia and muscle weakness. Results of muscle histopathology were consistent with myotonic dystrophy. Genetic analysis of leukocyte and muscle DNA showed a normal number of CTG repeats. The demonstration of normal CTG repeat number for the myotonic dystrophy gene does not exclude the diagnosis of myotonic dystrophy.
我们报告了来自2个家族的3例强直性肌营养不良患者，他们的强直性肌营养不良基因内CTG三核苷酸重复序列未出现异常扩增。这些患者强直性肌营养不良的特征性表现为前额秃发、白内障、心脏传导异常以及伴有肌强直和肌肉无力的睾丸萎缩。肌肉组织病理学结果与强直性肌营养不良一致。白细胞和肌肉DNA的基因分析显示CTG重复序列数量正常。强直性肌营养不良基因CTG重复序列数量正常并不能排除强直性肌营养不良的诊断。
