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

Genes - 26 Jul 2020

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

Abstract excerpt

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 (CI). In this study, we used a next-generation sequencing (NGS) panel to identify two novel biallelic variants in...

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Apoptosis Regulatory Proteins
Child, Preschool
Computational Biology
Fibroblasts
Leigh Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

NADH, NADPH Oxidoreductases

Oxidative Phosphorylation

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PMID: 32722639
DOI: 10.3390/genes11080855
PMCID: PMC7465247

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.PMID 32722639Read ↗

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