Identification and Characterization of New Variants in <i>FOXRED1</i> Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

Identification and Characterization of New Variants in <i>FOXRED1</i> Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

Complex I (nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase) is the largest complex of the mitochondrial oxidative phosphorylation system (OXPHOS) system. Forty-four subunits encoded in nuclear and mitochondrial genomes compose this multiprotein complex, its assembly being a highl...

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Bibliographic Details
Main Authors: Sofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, Luis Gutiérrez-Solana, Liesbeth Wintjes, Antonia Kappen, Lambert van den Heuvel, Rosaura Leis, Richard Rodenburg, María Luz Couce
Format: Article
Language:English
Published: MDPI AG 2019-08-01
Series:Journal of Clinical Medicine
Subjects:
mitochondrial disorders
complex I deficiency
FOXRED1
epilepsy
Online Access:https://www.mdpi.com/2077-0383/8/8/1262

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https://www.mdpi.com/2077-0383/8/8/1262

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