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

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

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 <i>NDUFB11</i> gene that encodes the NADH: ubi...

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Bibliographic Details
Main Authors: Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez, Juan C. Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel A. Martín
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
<i>NDUFB11</i> gene
mitochondrial complex I
neonatal cardiomyopathy
splicing
heart muscle
skeletal muscle
Online Access:https://www.mdpi.com/1422-0067/24/2/1743

Internet

https://www.mdpi.com/1422-0067/24/2/1743

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