Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29
Author:
Affiliation:
1. Krankenanstalt Rudolfstiftung
2. 2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung
3. Institute of Neurology, Medical University of Vienna
4. Institute for Human Genetics, Medical University of Graz
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/7/2/7_2018.01003/_pdf
Reference32 articles.
1. 1. Carsana A, Frisso G, Intrieri M, Tremolaterra MR, Giovanni Savarese G, Scapagnini G, Esposito G, Santoro L, Salvatore F. A 15-year molecular analysis of DMD/BMD: Genetic features in a large cohort. Front Biosci (Elite Ed). 2010; E2:547-558.
2. 2. Comi LI, Nigro G, Politano L, Petretta VR. The cardiomyopathy of Duchenne/Becker consultands. Int J Cardiol. 1992; 34:297-305.
3. 3. Ueda Y, Kawai H, Adachi K, Naruo T, Saito S. Cardiac dysfunction in female gene carriers of Duchenne muscular dystrophy. Rinsho Shinkeigaku. 1995; 35:1191-1198. (in Japanese)
4. 4. Yoon J, Kim SH, Ki CS, Kwon MJ, Lim MJ, Kwon SR, Joo K, Moon CG, Park W. Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis. J Korean Med Sci. 2011; 26:587-591.
5. 5. Hiramatsu S, Maekawa K, Hioka T, Takagaki K, Shoji K. Female carrier of Duchenne muscular dystrophy presenting with secondary dilated cardiomyopathy: A case report. J Cardiol. 2001; 38:35-40. (in Japanese)
Cited by 14 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. Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy;Current Cardiology Reviews;2024-11
2. Kir2.1-NaV1.5 channelosome and its role in arrhythmias in inheritable cardiac diseases;Heart Rhythm;2024-05
3. Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature;Heliyon;2024-04
4. Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy;Journal of Neuromuscular Diseases;2023-01-03
5. SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients;eLife;2022-06-28
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