Cargando…
Identification and Characterization of New Variants in FOXRED1 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...
Autores principales: | Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Borges, Filipa, Gutiérrez-Solana, Luis, Wintjes, Liesbeth, Kappen, Antonia, van den Heuvel, Lambert, Leis, Rosaura, Rodenburg, Richard, Couce, María Luz |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6723710/ https://www.ncbi.nlm.nih.gov/pubmed/31434271 http://dx.doi.org/10.3390/jcm8081262 |
Ejemplares similares
-
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL
por: Barbosa-Gouveia, Sofia, et al.
Publicado: (2020) -
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
por: Barbosa-Gouveia, Sofia, et al.
Publicado: (2021) -
Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder
por: Couce, María L., et al.
Publicado: (2020) -
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease
por: de Castro, María José, et al.
Publicado: (2020) -
Management of manifesting FOXRED1 carriers is complex
por: Finsterer, Josef, et al.
Publicado: (2019)