ABSTRACT Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin-interacting proteins. This paper presents clinical aspects of EDMD in context to causative genes, genotype-phenotype correlation and its emplacement within phenotypic spectrum of skeletal muscle diseases associated with envelopathies.

中文翻译：

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Emery-Dreifuss 肌营养不良症的临床表现

摘要 Emery-Dreifuss 肌营养不良症 (EDMD) 的临床特征是肩胛-肱骨-腓肌萎缩和无力、多关节挛缩伴脊柱僵硬和心肌病伴传导缺陷，与编码下列蛋白的基因的结构/功能缺陷有关。核膜，包括核纤层蛋白 A 和几种核纤层蛋白相互作用蛋白。本文介绍了 EDMD 的临床方面，涉及致病基因、基因型-表型相关性及其在与包膜病相关的骨骼肌疾病表型谱中的位置。