<p>We report a case of hypertrophic cardiomyopathy and lactic acidosis in a 3-year-old female. Cardiac and skeletal muscle biopsies exhibited mitochondrial hyperplasia with decreased complex VI activity. Whole exome sequencing identified compound heterozygous variants, p.Arg333Trp and p.Val119Leu, in <a href="https://www.ncbi.nlm.nih.gov/gene/10102">TSFM</a>, a nuclear gene that encodes a mitochondrial translation elongation factor, resulting in impaired oxidative phosphorylation and juvenile hypertrophic cardiomyopathy.</p>

Novel Gene-Environment Regulatory Circuit in Chamber-Specific Growth of    Perinatal Heart

1 selected publication including "Case Report: Whole Exome Sequencing Identifies Compound Heterozygous V..." (4 citations)

Novel Gene-Environment Regulatory Circuit in Chamber-Specific Growth of Perinatal Heart

Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy