Kleinsteuber K, Rocco P, Herrera L, Vainzof M, Birke M E, Yáñez M, Flandes A, Zatz M, de Carvallo P, Avaria M A
Servicio de Neuropsiquiatría Infantil, Hospital Clínico San Borja Arriarán.
Rev Med Chil. 2000 Jul;128(7):772-7.
Cramps and myalgias are frequent presentations of many disorders whose diagnosis is generally difficult. Among the unusual causes stand the milder phenotypes of dystrophinopathies, which are caused, just as Duchenne and Becker's dystrophy, by mutations in the dystrophin gene. An 8 year-old boy presented severe muscle pain on exercise and serum rise in creatine kinase over 1000 U/l. He had normal muscle power and mild calf hypertrophy. The molecular analysis by polymerase chain reaction (PCR) of the dystrophin gene showed deletions of exons 45 to 51. Dystrophin analysis by Western blot revealed a dystrophin of reduced quantity and molecular weight. Emphasis is made to include dystrophinopathies in the differential diagnosis of myalgias and the usefulness of molecular genetic techniques in the identification of these disorders.
痉挛和肌痛是许多疾病的常见症状，其诊断通常较为困难。在不常见的病因中，肌营养不良症的较轻表型较为突出，与杜氏和贝克肌营养不良症一样，它们是由肌营养不良蛋白基因突变引起的。一名8岁男孩在运动时出现严重肌肉疼痛，血清肌酸激酶升高超过1000 U/l。他的肌肉力量正常，小腿轻度肥大。通过聚合酶链反应（PCR）对肌营养不良蛋白基因进行分子分析，显示外显子45至51缺失。通过蛋白质印迹法进行的肌营养不良蛋白分析显示，肌营养不良蛋白的数量和分子量减少。强调在肌痛的鉴别诊断中应包括肌营养不良症，以及分子遗传学技术在识别这些疾病中的作用。
