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...

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Detalles Bibliográficos
Autores principales: Uittenbogaard, Martine, Sen, Kuntal, Whitehead, Matthew, Brantner, Christine A., Wang, Yue, Wong, Lee-Jun, Gropman, Andrea, Chiaramello, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
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

Internet

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

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