与左心室致密化不全相关的PLEC1突变。 - Suppr

Suppr

超能文献

PLEC1 mutation associated with left ventricular hypertrabeculation/noncompaction.

作者信息

Finsterer Josef, Stöllberger Claudia

机构信息

Postfach 20, 1180 Vienna, Austria.

2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, Austria.

出版信息

Neuromuscul Disord. 2015 May;25(5):447-8. doi: 10.1016/j.nmd.2015.02.005. Epub 2015 Feb 16.

DOI:10.1016/j.nmd.2015.02.005

PMID:25791580

Abstract

摘要

相似文献

PLEC1 mutation associated with left ventricular hypertrabeculation/noncompaction.与左心室致密化不全相关的PLEC1突变。

Neuromuscul Disord. 2015 May;25(5):447-8. doi: 10.1016/j.nmd.2015.02.005. Epub 2015 Feb 16.

Response to: PLEC1 mutation associated with left ventricular hypertrabeculation/noncompaction.对：与左心室小梁增多/心肌致密化不全相关的PLEC1突变的回应

Neuromuscul Disord. 2015 May;25(5):448-9. doi: 10.1016/j.nmd.2015.02.008. Epub 2015 Feb 17.

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.左心室致密化不全心肌病与单纯性大疱性表皮松解症合并肌肉营养不良及PLEC1突变相关。

Neuromuscul Disord. 2015 Feb;25(2):165-8. doi: 10.1016/j.nmd.2014.09.011. Epub 2014 Oct 2.

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.先天性肌营养不良症、肌无力症状和单纯型大疱性表皮松解症（EBS）与编码网蛋白的 PLEC1 基因突变相关。

Neuromuscul Disord. 2010 Nov;20(11):709-11. doi: 10.1016/j.nmd.2010.06.003. Epub 2010 Jul 10.

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.大疱性表皮松解症伴迟发性肌肉营养不良和伴框蛋白缺失。

Muscle Nerve. 2011 Jul;44(1):135-41. doi: 10.1002/mus.22076.

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.PLEC1突变是单纯性大疱性表皮松解症合并肌营养不良症患者成人期扩张型心肌病的病因。

J Invest Dermatol. 2010 Apr;130(4):1178-81. doi: 10.1038/jid.2009.390. Epub 2009 Dec 17.

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.新型常染色体隐性LAMA3和PLEC变异是两个近亲家庭中交界型大疱性表皮松解症全身中间型和单纯型大疱性表皮松解症合并肌肉营养不良的病因。

Clin Exp Dermatol. 2018 Aug;43(6):752-755. doi: 10.1111/ced.13610. Epub 2018 May 23.

Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy.单纯性大疱性表皮松解症合并肌营养不良症中的小儿眼肌麻痹和上睑下垂

J Pediatr Ophthalmol Strabismus. 2018 Aug 29;55:e26-e29. doi: 10.3928/01913913-20180806-03.

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.因纯合新型网蛋白点突变导致单纯性大疱性表皮松解症合并肌营养不良的荷兰原发病例家族的终身病程及分子特征

Acta Derm Venereol. 2004;84(2):124-31. doi: 10.1080/00015550310007094.

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.伴发肌营养不良的单纯性大疱性表皮松解症中的网蛋白缺陷

Muscle Nerve. 2007 Jan;35(1):24-35. doi: 10.1002/mus.20655.

引用本文的文献

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset.线粒体疾病在起病时可能酷似肌萎缩侧索硬化症。

Sultan Qaboos Univ Med J. 2016 Feb;16(1):e92-5. doi: 10.18295/squmj.2016.16.01.017. Epub 2016 Feb 2.

Genetic Testing Is Not Required for Diagnosing Left Ventricular Hypertrabeculation / Non-Compaction.诊断左心室心肌小梁增多/致密化不全无需进行基因检测。

Maedica (Bucur). 2015 Mar;10(1):69-72.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验