Kamakura K, Kawai M, Arahata K, Koizumi H, Watanabe K, Sugita H
Third Department of Internal Medicine, National Defence Medical College, Saitama, Japan.
J Neurol. 1990 Dec;237(8):483-5. doi: 10.1007/BF00314767.
A 42-year-old so-called manifesting carrier of Duchenne muscular dystrophy (DMD), whose first complaints were severe myocardial symptoms, is described. Immunohistochemical study using anti-dystrophin anti-serum and analysis of cloned segments of X chromosome DNA were performed. Her two sons and one of her brothers appear to have had the same disease. She was admitted to the hospital complaining of dyspnoea, back pain and palpitations and was first diagnosed as having myocardial infarction. However, this diagnosis was excluded. The echocardiogram showed diffuse abnormalities of myocardial function. Serum enzymes were increased. Minimal weakness and decreased deep tendon reflexes were detected in her left lower extremity. Muscle biopsy revealed a small number of necrotic fibres. Immunohistochemical study using anti-dystrophin antiserum showed a mosaic pattern of the surface membrane. Analysis of cloned segments of X chromosome DNA from the patient and her son showed the XmnI(Asp) alleles of pERT 87-15 and the TaqI alleles of pERT 87-8 in both patients.
本文描述了一名42岁的杜氏肌营养不良症（DMD）显性携带者，其最初症状为严重的心肌症状。使用抗肌营养不良蛋白抗血清进行了免疫组织化学研究，并对X染色体DNA的克隆片段进行了分析。她的两个儿子和一个兄弟似乎患有相同的疾病。她因呼吸困难、背痛和心悸入院，最初被诊断为心肌梗死。然而，该诊断被排除。超声心动图显示心肌功能弥漫性异常。血清酶升高。在她的左下肢检测到轻微无力和跟腱反射减弱。肌肉活检显示有少量坏死纤维。使用抗肌营养不良蛋白抗血清的免疫组织化学研究显示表面膜呈镶嵌模式。对患者及其儿子的X染色体DNA克隆片段分析显示，两名患者均具有pERT 87 - 15的XmnI（Asp）等位基因和pERT 87 - 8的TaqI等位基因。
