Yazaki M, Nakamura A, Yoshida K, Ikeda S
Department of Medicine (Neurology), Shinshu University School of Medicine.
Nihon Rinsho. 1997 Dec;55(12):3142-7.
Cardiomyopathy is one of the most important clinical manifestations in Becker muscular dystrophy (BMD), but the severity of cardiac involvement is not usually related to that of skeletal muscle disability in this disease. In general, BMD patients who carry the mutations in the 5' end of the dystrophin gene tend to show severe cardiac dysfunction compared with skeletal myopathy, and these mutations may be responsible for more selective involvement of dystrophin appearance in the myocardium. In this article, we review the causative relationship of the variable clinical pictures and the dystrophin gene abnormalities in BMD patients, focusing on the severity of cardiac disorder.
心肌病是贝克型肌营养不良症(BMD)最重要的临床表现之一,但在这种疾病中,心脏受累的严重程度通常与骨骼肌残疾的严重程度无关。一般来说,与骨骼肌病相比,携带肌营养不良蛋白基因5'端突变的BMD患者往往表现出严重的心脏功能障碍,这些突变可能是导致肌营养不良蛋白在心肌中更具选择性出现的原因。在本文中,我们回顾了BMD患者不同临床表现与肌营养不良蛋白基因异常之间的因果关系,重点关注心脏疾病的严重程度。