Angelini Corrado, Grisold Wolfgang, Nigro Vincenzo
Department of Neurosciences, University of Padova, Italy.
Acta Myol. 2011 Dec;30(3):185-7.
We investigated the clinical and molecular pattern of two young men affected by dysferlinopathy, that was first diagnosed as polymyositis. We show that their symptoms and clinical course although progressive were peculiar, as well as their biopsy suggesting a subsequent analysis of dysferlin protein by western blotting. Molecular analysis of dysferlin gene revealed pathogenetic mutations in both cases. In such cases a screening with Western blot followed by DNA analysis of dysferlin gene is therefore recommended. We present a diagnostic algorythm for patients with suspected myositis but presenting signs of disease progression and poor response to steroids.
我们研究了两名患有dysferlin病的年轻男性的临床和分子模式，该病最初被诊断为多发性肌炎。我们发现，尽管他们的症状和临床病程呈进行性，但具有独特性，其活检结果也表明随后需要通过蛋白质免疫印迹法对dysferlin蛋白进行分析。对dysferlin基因的分子分析显示，两例均存在致病突变。因此，对于此类病例，建议先进行蛋白质免疫印迹法筛查，随后对dysferlin基因进行DNA分析。我们为疑似肌炎但有疾病进展迹象且对类固醇治疗反应不佳的患者提出了一种诊断算法。
