Rubio J C, Martín M A, Bautista J, Campos Y, Segura D, Arenas J
Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain.
Neuromuscul Disord. 1997 Sep;7(6-7):387-9. doi: 10.1016/s0960-8966(97)00095-3.
We studied a 25-year-old man with paresis of the limbs and neck, scapular atrophy, facial weakness, exercise intolerance and frequent episodes of myoglobinuria. Muscle histochemistry and biochemistry revealed a combined defect of myophosphorylase and AMP deaminase. Molecular genetic analysis showed that the patient was homozygous for the two most common mutations associated with myophosphorylase and AMP deaminase deficiencies. This is the second documented case of genetic 'double trouble', which should be looked for in patients with unusual severe phenotypes.
我们研究了一名25岁男性，他存在肢体和颈部麻痹、肩胛肌萎缩、面部肌无力、运动不耐受以及频繁发作的肌红蛋白尿。肌肉组织化学和生物化学检查显示肌磷酸化酶和AMP脱氨酶存在联合缺陷。分子遗传学分析表明，该患者对于与肌磷酸化酶和AMP脱氨酶缺乏相关的两种最常见突变呈纯合状态。这是第二例有文献记载的遗传性“双重麻烦”病例，对于具有异常严重表型的患者应留意这种情况。
