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

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 cardiomy...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3060326/
https://ncbi.nlm.nih.gov/pubmed/21189481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.214
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