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Article

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.

International journal of molecular sciences - 16 Jan 2023

Amate-García Guillermo, Ballesta-Martínez María Juliana, Serrano-Lorenzo Pablo, Garrido-Moraga Rocío, González-Quintana Adrián, Blázquez Alberto, Rubio Juan C, García-Consuegra Inés, Arenas Joaquín, Ugalde Cristina, Morán María, Guillén-Navarro Encarnación, Martín Miguel A

Abstract excerpt

We report a neonatal patient with hypertrophic cardiomyopathy (HCM), lactic acidosis and isolated complex I deficiency. Using a customized next-generation sequencing panel, we identified a novel hemizygous variant c.338G>A in the X-linked NDUFB11 gene that encodes the NADH: ubiquinone oxidoreductase subunit B11 of the mitochondrial respiratory chain (MRC) complex I (CI). Molecular and functional assays performed...

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Identifiers

PMID: 36675256
DOI: 10.3390/ijms24021743
PMCID: PMC9865986

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