Prelle A, Medori R, Moggio M, Chan H W, Gallanti A, Scarlato G, Bonilla E
Istituto di Clinica Neurologica, Centro Dino Ferrari, Universita di Milano, Italy.
J Neurol. 1992 Feb;239(2):76-8. doi: 10.1007/BF00862976.
We studied a 5-year-old boy who had the "floppy infant syndrome" and a dystrophic pattern on muscle biopsy. According to the clinical presentation and the histopathological findings the diagnosis of congenital muscular dystrophy with associated intellectual retardation was made. Immunohistochemical and immunoblot studies using anti-dystrophin antibodies showed complete absence of the protein in the patient's muscle. DNA analysis using cDNA probes showed a deletion at the 5' end of the dystrophin gene. Our observations on this patient suggest a new phenotypical variant of Duchenne muscular dystrophy.
我们研究了一名患有“松软婴儿综合征”且肌肉活检呈营养不良模式的5岁男孩。根据临床表现和组织病理学检查结果，诊断为伴有智力发育迟缓的先天性肌营养不良。使用抗肌营养不良蛋白抗体进行的免疫组织化学和免疫印迹研究显示，患者肌肉中完全不存在该蛋白。使用cDNA探针进行的DNA分析显示，肌营养不良蛋白基因的5'端存在缺失。我们对该患者的观察结果提示了杜氏肌营养不良的一种新的表型变异。
