Article
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.
Clinical genetics - 1 Mar 2018
Burke E A, Frucht S J, Thompson K, Wolfe L A, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams D R, Taylor R W, Gahl W A, Toro C, Malicdan M C V
Abstract excerpt
Mitochondrial aminoacyl-tRNA synthetases (mtARSs) are essential, ubiquitously expressed enzymes that covalently attach amino acids to their corresponding tRNA molecules during translation of mitochondrial genes. Deleterious variants in the mtARS genes cause a diverse array of phenotypes, many of which involve the nervous system. Moreover, distinct mutations in mtARSs often cause different clinical manifestations....
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