Associated Papers
Arg339Gln Is a Recurrent Variant in Rare Combined Oxidative Phosphorylation Deficiency 4: A New Patient with Biallelic TUFM Gene Variant.
Tekmenuray-Unal A et al.
Molecular Syndromology, 2025
Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.
Antolínez-Fernández Á et al.
Frontiers in Cell and Developmental Biology, 2024
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
Hershkovitz T et al.
Journal of Human Genetics, 2019
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
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