Doriguzzi C, Palmucci L, Mongini T, Chiadò-Piat L, Restagno G, Ferrone M
Paolo Periolo Centre for Neuromuscular Diseases, University of Turin, Italy.
J Neurol. 1993 May;240(5):269-71. doi: 10.1007/BF00838159.
A 9-year-old boy complained of exertional myalgias and described two episodes of myoglobinuria. His family history was negative for neuromuscular diseases. The findings of a neurological examination were normal. Serum creatine kinase was increased, ECG was normal, EMG showed slight "myopathic" signs. Muscle biopsy disclosed a small group of basophilic fibres as the only abnormality. Muscle glycolytic enzymes and carnitine palmitoyl transferase were normal. Immunoblotting using antidystrophin antibody demonstrated a protein with low molecular weight. Genomic DNA analysis showed a deletion of the HindIII fragments spanning from exon 45 to exon 48. Eight years after the first observation the patient has diffuse muscle hypertrophy without muscle weakness.
一名9岁男孩主诉运动性肌痛，并描述了两次肌红蛋白尿发作。他的家族史中无神经肌肉疾病。神经系统检查结果正常。血清肌酸激酶升高，心电图正常，肌电图显示轻微的“肌病性”体征。肌肉活检显示唯一的异常是一小群嗜碱性纤维。肌肉糖酵解酶和肉碱棕榈酰转移酶正常。使用抗肌营养不良蛋白抗体的免疫印迹显示一种低分子量蛋白质。基因组DNA分析显示跨越外显子45至外显子48的HindIII片段缺失。首次观察8年后，患者出现弥漫性肌肉肥大但无肌无力。
