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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.

DOI:10.1080/19491034.2018.1462635
PMID:29633897
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5973255/
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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2
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本文引用的文献

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Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies.患有心脏疾病患者的低症状骨骼肌疾病 - 骨骼肌层联蛋白病的诊断方法。
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A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.一个中国埃默里-德赖富斯样肌营养不良家族中的一种新的SYNE1基因突变。
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Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.儿童先天性LMNA相关肌营养不良的心脏表现：三例报告及护理建议
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Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features.骨骼肌核纤层蛋白病：临床与分子特征综述
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Kardiol Pol. 2015;73(10):942. doi: 10.5603/KP.2015.0187.
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Annu Rev Biochem. 2015;84:131-64. doi: 10.1146/annurev-biochem-060614-034115. Epub 2015 Feb 26.
8
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Neuromuscul Disord. 2015 Feb;25(2):127-36. doi: 10.1016/j.nmd.2014.09.012. Epub 2014 Oct 6.
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Neurology. 2014 Oct 28;83(18):1634-44. doi: 10.1212/WNL.0000000000000934. Epub 2014 Oct 1.