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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7465247/
https://ncbi.nlm.nih.gov/pubmed/32722639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11080855
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