Article
A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.
Molecular genetics and metabolism - 1 Dec 2020
Kripps Kimberly A, Friederich Marisa W, Chen Ting, Larson Austin A, Mirsky David M, Wang Yue, Tanji Kurenai, Knight Kaz M, Wong Lee-Jun, Van Hove Johan L K
Abstract excerpt
Genetic defects in mitochondrial DNA encoded tRNA genes impair mitochondrial translation with resultant defects in the mitochondrial respiratory chain and oxidative phosphorylation system. The phenotypic spectrum of disease seen in mitochondrial tRNA defects is variable and proving pathogenicity of new variants is challenging. Only three pathogenic variants have been described previously in the mitochondrial...
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