Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

Leigh syndrome (LS) usually presents as an early onset mitochondrial encephalopathy characterized by bilateral symmetric lesions in the basal ganglia and cerebral stem. More than 75 genes have been associated with this condition, including genes involved in the biogenesis of mitochondrial complex I...

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Detalles Bibliográficos
Autores principales: González-Quintana, Adrián, García-Consuegra, Inés, Belanger-Quintana, Amaya, Serrano-Lorenzo, Pablo, Lucia, Alejandro, Blázquez, Alberto, Docampo, Jorge, Ugalde, Cristina, Morán, María, Arenas, Joaquín, Martín, Miguel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465247/
https://www.ncbi.nlm.nih.gov/pubmed/32722639
http://dx.doi.org/10.3390/genes11080855

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465247/
https://www.ncbi.nlm.nih.gov/pubmed/32722639
http://dx.doi.org/10.3390/genes11080855

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