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。 - Suppr

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.

作者信息

Bolling Maria C, Pas Hendri H, de Visser Marianne, Aronica Eleonora, Pfendner Ellen G, van den Berg Maarten P, Diercks Gilles F H, Suurmeijer Albert J H, Jonkman Marcel F

出版信息

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

DOI:10.1038/jid.2009.390

PMID:20016501

Abstract

摘要

相似文献

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.

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

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.

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.

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

Epidermolysis bullosa simplex with muscular dystrophy.

Dermatol Clin. 2010 Apr;28(2):245-55, viii. doi: 10.1016/j.det.2010.01.001.

[Epidermolysis bullosa simplex with progressive muscular dystrophy due to plectin deficiency].

Ned Tijdschr Geneeskd. 2000 Aug 5;144(32):1565-6.

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.

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.

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

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

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

Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.

Hum Mutat. 2010 Oct;31(10):E1687-98. doi: 10.1002/humu.21330.

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.

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

引用本文的文献

The Desmoglein 2 interactome in primary neonatal cardiomyocytes.

bioRxiv. 2025 Jun 10:2025.06.09.658637. doi: 10.1101/2025.06.09.658637.

Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia.

Cureus. 2023 Aug 9;15(8):e43206. doi: 10.7759/cureus.43206. eCollection 2023 Aug.

Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.

Int J Mol Sci. 2022 Oct 10;23(19):12020. doi: 10.3390/ijms231912020.

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.

Hum Mutat. 2022 Dec;43(12):1706-1731. doi: 10.1002/humu.24434. Epub 2022 Jul 29.

Plectin in Skin Fragility Disorders.

Cells. 2021 Oct 14;10(10):2738. doi: 10.3390/cells10102738.

Muscle-Related Plectinopathies.

Cells. 2021 Sep 19;10(9):2480. doi: 10.3390/cells10092480.

Identifying Plectin Isoform Functions through Animal Models.

Cells. 2021 Sep 17;10(9):2453. doi: 10.3390/cells10092453.

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.

J Vet Intern Med. 2020 Nov;34(6):2800-2807. doi: 10.1111/jvim.15943. Epub 2020 Nov 2.

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex.

Acta Derm Venereol. 2020 Aug 18;100(15):adv00242. doi: 10.2340/00015555-3600.

Four Individuals with a Homozygous Mutation in Exon 1f of the Gene and Associated Myasthenic Features.

Genes (Basel). 2020 Jun 27;11(7):716. doi: 10.3390/genes11070716.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献