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Article

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2014

Castro-Gago Manuel, Dacruz-Alvarez David, Pintos-Martínez Elena, Beiras-Iglesias Andrés, Delmiro Aitor, Arenas Joaquín, Martín Miguel Ángel, Martínez-Azorín Francisco

Abstract excerpt

BACKGROUND: Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtDNA) depletion. AIMS: To report mutations in carry genes for MDCMC with respiratory chain defects and mtDNA depletion. METHODS: Whole-exome sequencing (WES) was used...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24997086
DOI: 10.1016/j.ejpn.2014.06.005

Genes

CHKB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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