Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy

被引:9
作者
Almannai, Mohammed [1 ,2 ]
Luo, Shiyu [3 ,4 ,5 ]
Faqeih, Eissa [1 ]
Almutairi, Fuad [6 ,7 ,8 ]
Li, Qifei [3 ,4 ,5 ]
Agrawal, Pankaj B. [3 ,4 ,5 ]
机构
[1] King Fahad Medica City, Children Specialized Hosp, Med Genet Sect, Riyadh, Saudi Arabia
[2] King Saud Univ, Coll Med, Riyadh, Saudi Arabia
[3] Boston Childrens Hosp, Div Newborn Med, Boston, MA USA
[4] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
[5] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA USA
[6] King Abdul Aziz Med City, Genet & Precis Med Dept, Riyadh, Saudi Arabia
[7] King Saud Bin Abdulaziz Univ Hlth Sci, Riyadh, Saudi Arabia
[8] King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia
来源
CIRCULATION-GENOMIC AND PRECISION MEDICINE | 2021年 / 14卷 / 02期
关键词
cardiomyopathy; exome; heart failure; mitral valve; sibling;
D O I
10.1161/CIRCGEN.120.003310
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:255 / 257
页数:3
相关论文
共 5 条
[1]   SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy [J].
Agrawal, Pankaj B. ;
Pierson, Christopher R. ;
Joshi, Mugdha ;
Liu, Xiaoli ;
Ravenscroft, Gianina ;
Moghadaszadeh, Behzad ;
Talabere, Tiffany ;
Viola, Marissa ;
Swanson, Lindsay C. ;
Haliloglu, Goknur ;
Talim, Beril ;
Yau, Kyle S. ;
Allcock, Richard J. N. ;
Laing, Nigel G. ;
Perrella, Mark A. ;
Beggs, Alan H. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (02) :218-226
[2]   A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy [J].
Levitas, Aviva ;
Muhammad, Emad ;
Zhang, Yuan ;
Perea Gil, Isaac ;
Serrano, Ricardo ;
Diaz, Nashielli ;
Arafat, Maram ;
Gavidia, Alexandra A. ;
Kapiloff, Michael S. ;
Mercola, Mark ;
Etzion, Yoram ;
Parvari, Ruti ;
Karakikes, Ioannis .
PLOS GENETICS, 2020, 16 (09)
[3]   SPEG Controls Calcium Reuptake Into the Sarcoplasmic Reticulum Through Regulating SERCA2a by Its Second Kinase-Domain [J].
Quan, Chao ;
Li, Min ;
Du, Qian ;
Chen, Qiaoli ;
Wang, Hong ;
Campbell, David ;
Fang, Lei ;
Xue, Bin ;
MacKintosh, Carol ;
Gao, Xiang ;
Ouyang, Kunfu ;
Wang, Hong Yu ;
Chen, Shuai .
CIRCULATION RESEARCH, 2019, 124 (05) :712-726
[4]   SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity [J].
Quick, Ann P. ;
Wang, Qiongling ;
Philippen, Leonne E. ;
Barreto-Torres, Giselle ;
Chiang, David Y. ;
Beavers, David ;
Wang, Guoliang ;
Khalid, Maha ;
Reynolds, Julia O. ;
Campbell, Hannah M. ;
Showell, Jordan ;
McCauley, Mark D. ;
Scholten, Arjen ;
Wehrens, Xander H. T. .
CIRCULATION RESEARCH, 2017, 120 (01) :110-+
[5]   Novel SPEG variant cause centronuclear myopathy in China [J].
Tang, Jia ;
Ma, Wei ;
Chen, Yangran ;
Jiang, Runze ;
Zeng, Qinlong ;
Tan, Jieliang ;
Jiang, Hongqing ;
Li, Qing ;
Zhang, Victor W. ;
Wang, Jing ;
Tang, Hui ;
Luo, Liangping .
JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2020, 34 (02)