A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report

BACKGROUND: The NADH:ubiquinone oxidoreductase complex assembly factor gene (NDUFAF5) has been linked to the occurrence of Leigh syndrome, but few causative mutations have been identified. Here we report a rare case of Leigh syndrome in an infant who died in the early postnatal period. METHODS: We p...

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Detalles Bibliográficos
Autores principales: Wen, Yan, Lu, Guoyan, Qiao, Lina, Li, Yifei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801144/
https://www.ncbi.nlm.nih.gov/pubmed/34964562
http://dx.doi.org/10.1002/mgg3.1852

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801144/
https://www.ncbi.nlm.nih.gov/pubmed/34964562
http://dx.doi.org/10.1002/mgg3.1852

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