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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| 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 |