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Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome
In this study, we aimed to establish the mitochondrial etiology of the proband’s progressive neurodegenerative disease suggestive of an atypical Leigh syndrome, by determining the proband’s pathogenic variants. Brain MRI showed a constellation of multifocal temporally disparate lesions in the cerebr...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728009/ https://www.ncbi.nlm.nih.gov/pubmed/35004675 http://dx.doi.org/10.3389/fcell.2021.767407 |