Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
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DOI: 10.3389/fped.2023.1160107
Abstract: The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosomal recessive sideroblastic anemia… read more here.
Keywords: muscle involvement; muscle; chinese patient; trnt1 ... See more keywords