Novel <i>NDUFA13</i> Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

Novel <i>NDUFA13</i> 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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Bibliographic Details
Main Authors: Adrián González-Quintana, Inés García-Consuegra, Amaya Belanger-Quintana, Pablo Serrano-Lorenzo, Alejandro Lucia, Alberto Blázquez, Jorge Docampo, Cristina Ugalde, María Morán, Joaquín Arenas, Miguel A. Martín
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Genes
Subjects:
mitochondrial complex I deficiency
<i>NDUFA13</i> gene
mitochondrial OXPHOS dysfunction
Leigh syndrome
OXPHOS assembly
OXPHOS diagnosis
Online Access:https://www.mdpi.com/2073-4425/11/8/855

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https://www.mdpi.com/2073-4425/11/8/855

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