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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Detalles Bibliográficos
Autores principales: Wei, Cui-Jie, Liu, Yi-Dan, Yang, Yan-Ling, Wu, Yuan, Liu, Jie-Yu, Chang, Xing-Zhi, Hua, Ying, Liu, Yu-He, Xiong, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196124/
https://www.ncbi.nlm.nih.gov/pubmed/37215601
http://dx.doi.org/10.3389/fped.2023.1160107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196124/
https://www.ncbi.nlm.nih.gov/pubmed/37215601
http://dx.doi.org/10.3389/fped.2023.1160107

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