Author:
Yang Jamie O.,Shaybekyan Hapet,Zhao Yan,Kang Xuedong,Fishbein Gregory A.,Khanlou Negar,Alejos Juan C.,Halnon Nancy,Satou Gary,Biniwale Reshma,Lee Hane,Van Arsdell Glen,Nelson Stanley F.,Touma Marlin, ,
Abstract
We report a case of hypertrophic cardiomyopathy and lactic acidosis in a 3-year-old female. Cardiac and skeletal muscles biopsies exhibited mitochondrial hyperplasia with decreased complex IV activity. Whole exome sequencing identified compound heterozygous variants, p.Arg333Trp and p.Val119Leu, in TSFM, a nuclear gene that encodes a mitochondrial translation elongation factor, resulting in impaired oxidative phosphorylation and juvenile hypertrophic cardiomyopathy.
Funder
National Heart, Lung, and Blood Institute
U.S. Department of Defense
Clinical and Translational Science Institute, University of California, Los Angeles
Subject
Cardiology and Cardiovascular Medicine
Cited by
3 articles.
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