成人起病的肥厚型心肌病表现为线粒体疾病的初始主要表现，伴有A-to-G 3243 tRNA（Leu(UUR)）点突变。 - Suppr

Suppr

超能文献

Adult-onset hypertrophic cardiomyopathy manifested as initial major presentation of mitochondrial disease with A-to-G 3243 tRNA (Leu(UUR)) point mutation.

作者信息

Hsu Po-Chao, Chu Chih-Sheng, Lin Tsung-Hsien, Lu Ye-Hsu, Lee Chee-Siong, Lai Wen-Ter, Sheu Sheng-Hsiung

出版信息

Int J Cardiol. 2008 Oct 13;129(3):441-3. doi: 10.1016/j.ijcard.2007.06.098. Epub 2007 Aug 13.

DOI:10.1016/j.ijcard.2007.06.098

PMID:17692973

Abstract

摘要

相似文献

Adult-onset hypertrophic cardiomyopathy manifested as initial major presentation of mitochondrial disease with A-to-G 3243 tRNA (Leu(UUR)) point mutation.成人起病的肥厚型心肌病表现为线粒体疾病的初始主要表现，伴有A-to-G 3243 tRNA（Leu(UUR)）点突变。

Int J Cardiol. 2008 Oct 13;129(3):441-3. doi: 10.1016/j.ijcard.2007.06.098. Epub 2007 Aug 13.

Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene.与线粒体tRNA（赖氨酸）基因A8296G突变相关的致命性肥厚型心肌病

Hum Mutat. 2000 Apr;15(4):382. doi: 10.1002/(SICI)1098-1004(200004)15:4<382::AID-HUMU15>3.0.CO;2-B.

[Mitochondria and cardiomyopathy].[线粒体与心肌病]

Nihon Rinsho. 2002 Apr;60 Suppl 4:535-9.

Prevalence and clinical characteristics of mitochondrial tRNA leu(UUR) mt 3243 A-->G and ND-1 gene mt 3316 G-->A mutations in Chinese patients with type 2 diabetes.

Chin Med J (Engl). 2001 Nov;114(11):1205-7.

Hypertrophic cardiomyopathy in patients with diabetes mellitus associated with mitochondrial tRNA(Leu)(UUR) gene mutation.糖尿病合并线粒体tRNA（Leu）（UUR）基因突变患者的肥厚型心肌病

Intern Med. 1995 Oct;34(10):953-8. doi: 10.2169/internalmedicine.34.953.

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.突尼斯线粒体疾病患者线粒体tRNALeu(UUR)基因的突变分析。

Biochem Biophys Res Commun. 2007 Apr 20;355(4):1031-7. doi: 10.1016/j.bbrc.2007.02.083. Epub 2007 Feb 26.

Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy.线粒体脑肌病伴线粒体转运RNA（亮氨酸（UUR））3243位点A到G转换，表现为肥厚型心肌病。

Intern Med. 1995 Jul;34(7):670-3. doi: 10.2169/internalmedicine.34.670.

Hypertrophic cardiomyopathy as the initial presentation of mitochondrial disease in an infant born to a diabetic mother.糖尿病母亲所生婴儿肥厚型心肌病为线粒体疾病的初始表现。

Cardiol Young. 2023 Sep;33(9):1743-1745. doi: 10.1017/S1047951123000392. Epub 2023 Mar 23.

Hypertrophic cardiomyopathy in mitochondrial disorders: description of an uncommon clinical case.线粒体疾病中的肥厚型心肌病：一例罕见临床病例描述

Eur J Heart Fail. 2017 Sep;19(9):1201-1204. doi: 10.1002/ejhf.858. Epub 2017 Jun 6.

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.与母系遗传心肌病相关的tRNA（亮氨酸（UUR））基因中的一种新的线粒体DNA突变。

Hum Mutat. 1994;3(1):37-43. doi: 10.1002/humu.1380030107.

引用本文的文献

tRNA-Derived Small RNAs and Their Potential Roles in Cardiac Hypertrophy.转运RNA衍生的小RNA及其在心肌肥厚中的潜在作用

Front Pharmacol. 2020 Sep 17;11:572941. doi: 10.3389/fphar.2020.572941. eCollection 2020.

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.心肌病在患有线粒体 DNA m.3243A>G 突变的患者中很常见，并且与突变负荷相关。

Neuromuscul Disord. 2012 Jul;22(7):592-6. doi: 10.1016/j.nmd.2012.03.001. Epub 2012 Apr 17.

Cardiological manifestations of mitochondrial respiratory chain disorders.线粒体呼吸链疾病的心脏表现

Acta Myol. 2011 Jun;30(1):9-15.

Multiple neurologic, psychiatric, and endocrine complaints in a young woman: a case discussion and review of the clinical features and management of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke.一名年轻女性的多种神经、精神和内分泌症状：线粒体肌病、脑病、乳酸酸中毒和卒中的临床特征及管理的病例讨论与综述

Prim Care Companion J Clin Psychiatry. 2008;10(3):237-44. doi: 10.4088/pcc.v10n0309.

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