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Article

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

European journal of human genetics : EJHG - 1 Apr 2011

Smits Paulien, Saada Ann, Wortmann Saskia B, Heister Angelien J, Brink Maaike, Pfundt Rolph, Miller Chaya, Haas Dorothea, Hantschmann Ralph, Rodenburg Richard J T, Smeitink Jan A M, van den Heuvel Lambert P

Abstract excerpt

The oxidative phosphorylation (OXPHOS) system is under control of both the mitochondrial and the nuclear genomes; 13 subunits are synthesized by the mitochondrial translation machinery. We report a patient with Cornelia de Lange-like dysmorphic features, brain abnormalities and hypertrophic cardiomyopathy, and studied the genetic defect responsible for the combined OXPHOS complex I, III and IV deficiency observed...

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Share to Cardiomyopathy, Hypertrophic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21189481
DOI: 10.1038/ejhg.2010.214
PMCID: PMC3060326

Genes

MRPS22

Provenance

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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.PMID 21189481Read ↗

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