Cox G F, Kunkel L M
Children's Hospital, Boston, MA 02115, USA.
Curr Opin Cardiol. 1997 May;12(3):329-43.
The muscular dystrophies are a clinically and genetically heterogeneous group of skeletal muscle-wasting diseases that differ widely in their frequency and pattern of cardiac involvement. Myocardial disease manifesting predominantly as cardiomyopathy and congestive heart failure is characteristic of Duchenne and Becker muscular dystrophies and X-linked dilated cardiomyopathy, whereas conduction system abnormalities that cause heart block, arrhythmias, and sudden death are more commonly seen in limb-girdle type 1B, myotonic, and Emery-Dreifuss muscular dystrophies. Primary defects in the mechanical stabilization of the plasma membrane and signal transduction may underlie these two groups of muscular dystrophies. The identification of several new disease genes has yielded additional insights into the pathophysiology of muscular dystrophy. Molecular genetic and biochemical analyses of patient samples now permit accurate diagnosis and genotype-phenotype correlations. Ultimately, this knowledge will provide the foundation for etiology-specific gene therapy.
肌营养不良症是一组临床和遗传异质性的骨骼肌萎缩疾病，其心脏受累的频率和模式差异很大。主要表现为心肌病和充血性心力衰竭的心肌疾病是杜氏和贝克肌营养不良症以及X连锁扩张型心肌病的特征，而导致心脏传导阻滞、心律失常和猝死的传导系统异常在1B型肢带型、强直性和埃默里-德赖富斯肌营养不良症中更为常见。质膜机械稳定和信号转导的原发性缺陷可能是这两组肌营养不良症的基础。几个新疾病基因的鉴定为肌营养不良症的病理生理学提供了更多见解。对患者样本的分子遗传学和生化分析现在可以进行准确诊断和基因型-表型相关性研究。最终，这些知识将为病因特异性基因治疗提供基础。
