Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

• Main Authors: Cui-Jie Wei (Author), Yi-Dan Liu (Author), Yan-Ling Yang (Author), Yuan Wu (Author), Jie-Yu Liu (Author), Xing-Zhi Chang (Author), Ying Hua (Author), Yu-He Liu (Author), Hui Xiong (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 with B-cell immunodeficienc...