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

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

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...

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Bibliographic Details
Main Authors: Cui-Jie Wei, Yi-Dan Liu, Yan-Ling Yang, Yuan Wu, Jie-Yu Liu, Xing-Zhi Chang, Ying Hua, Yu-He Liu, Hui Xiong
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Pediatrics
Subjects:
TRNT1
mitochondrial myopathy
hyperCKemia
sensorineural hearing loss
sideroblastic anemia
developmental delay
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1160107/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1160107/full

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