NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI deficiency in the brazilian population by reporting three patients with...

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Detalles Bibliográficos
Autores principales: Zanette, Vanessa, do Valle, Daniel, Telles, Bruno Augusto, Robinson, Alan J., Monteiro, Vaneisse, Santos, Mara Lucia S. F., Souza, Ricardo Lehtonen R., Benincá, Cristiane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2021
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607527/
https://www.ncbi.nlm.nih.gov/pubmed/34807224
http://dx.doi.org/10.1590/1678-4685-GMB-2021-0149

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607527/
https://www.ncbi.nlm.nih.gov/pubmed/34807224
http://dx.doi.org/10.1590/1678-4685-GMB-2021-0149

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