A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference10 articles.
1. Two different forms of beta myosin heavy chain are expressed in human striated muscle;Jandreski;Hum Genet,1987
2. Hereditary myosin myopathies;Oldfors;Neuromuscul Disord,2007
3. Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations;Walsh;Cardiology,2010
4. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1);Meredith;Am J Hum Genet,2004
5. New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7;Darin;Neurology,2007
Cited by 3 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. A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy;Orphanet Journal of Rare Diseases;2022-07-19
2. Understanding Musculoskeletal Disorders Through Next-Generation Sequencing;JBJS Reviews;2022-04
3. Correlations between electromyographic amplitude of the erector spinae and the location, direction and number of spinal curvatures in young school children;Medical Studies;2021
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