Emery-Dreifuss 肌营养不良症的临床方面。
Clinical aspects of Emery-Dreifuss muscular dystrophy.
机构信息
a Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences , Warsaw , Poland.
出版信息
Nucleus. 2018 Jan 1;9(1):268-274. doi: 10.1080/19491034.2018.1462635.
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.
摘要
先天性肌营养不良症（EDMD），临床上以肩胛肱腓肌萎缩和无力、多关节挛缩伴脊柱僵硬和传导缺陷性心肌病为特征，与编码核膜蛋白的基因的结构/功能缺陷有关，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 的临床特征、致病基因、基因型-表型相关性及其在与 envelopathies 相关的骨骼肌疾病表型谱中的定位。
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