Higher Proportion of Mitochondrial A3243G Mutation in Blood Than in Skeletal Muscle in a Patient with Cardiomyopathy and Hearing Loss-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Higher Proportion of Mitochondrial A3243G Mutation in Blood Than in Skeletal Muscle in a Patient with Cardiomyopathy and Hearing Loss

Published:2000-07 Issue:3 Volume:70 Page:235-237
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Deschauer Marcus,Neudecker Stefan,Müller Tobias,Gellerich Frank-Norbert,Zierz Stephan

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference12 articles.

1. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies;Goto;Nature,1990

2. Mitochondrial 3243A→G mutation (MELAS mutation) associated with painful muscle stiffness;Deschauer;Neuromusc Disord,1999

3. The mitochondrial A3243G mutation presenting as severe cardiomyopathy;Vilarinho;J Med Genet,1997

4. Maternally inherited cardiomyopathy: A new phenotype associated with the A to G nt;Silvestri;Muscle & Nerve,1997

5. MELAS: Clinical features, biochemistry, and molecular genetics;Ciafaloni;Ann Neurol,1992

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations;Journal of Clinical Medicine;2022-10-30

2. Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening;Biochemical and Biophysical Research Communications;2017-02

3. Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: An overview study;Mitochondrial DNA;2013-01-09

4. A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNAIle m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss;Biochemical and Biophysical Research Communications;2011-01

5. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation;Diabetic Medicine;2008-04

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3