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Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
Leigh syndrome is an early onset progressive disorder caused by defects in mitochondrial oxidative phosphorylation. Pathogenic variants in nuclear and mitochondrial genes are associated with the syndrome. Homozygous pathogenic variants in the C12orf65 gene impair the mitochondrial oxidative phosphor...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263430/ https://www.ncbi.nlm.nih.gov/pubmed/32478789 http://dx.doi.org/10.1590/1678-4685-GMB-2018-0271 |