Tachi N, Tachi M, Sasaki K, Nagata N, Chiba S
Department of Pediatrics, Sapporo Medical College, Japan.
Pediatr Neurol. 1990 Jul-Aug;6(4):265-8. doi: 10.1016/0887-8994(90)90119-l.
We report 2 patients with childhood autosomal recessive muscular dystrophy. Both patients had slight muscle weakness without enlargement of the calf muscles or involvement of the facial muscles. Their clinical courses are static. Muscle histology revealed characteristic features of muscular dystrophy. Dystrophin was identifiable in the sarcolemma of both patients by immunocytochemical staining with an antidystrophin antibody. At an early age, immunocytochemical analysis with antidystrophin antibody was useful in distinguishing between childhood autosomal recessive and Duchenne muscular dystrophies.
我们报告了2例患有儿童常染色体隐性遗传性肌营养不良症的患者。两名患者均有轻微肌肉无力，无小腿肌肉增大或面部肌肉受累。他们的临床病程呈静止性。肌肉组织学显示出肌营养不良症的特征性表现。通过使用抗肌萎缩蛋白抗体进行免疫细胞化学染色，在两名患者的肌膜中均可识别出肌萎缩蛋白。在早期，使用抗肌萎缩蛋白抗体进行免疫细胞化学分析有助于区分儿童常染色体隐性遗传性肌营养不良症和杜氏肌营养不良症。
