Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2

BACKGROUND: As a rare mitochondrial disease, combined oxidative phosphorylation deficiency 14 (COXPD14) is caused by biallelic variants in the phenylalanyl-tRNA synthetase 2, mitochondrial gene (FARS2) with clinical features of developmental delay, an elevated lactate level, early-onset encephalopat...

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Detalles Bibliográficos
Autores principales: Li, Liangshan, Ma, Jianhua, Wang, Jingli, Dong, Liping, Liu, Shiguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511728/
https://www.ncbi.nlm.nih.gov/pubmed/36155627
http://dx.doi.org/10.1186/s40001-022-00808-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511728/
https://www.ncbi.nlm.nih.gov/pubmed/36155627
http://dx.doi.org/10.1186/s40001-022-00808-7

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