Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

ABSTRACT COA6/C1ORF31 is involved in cytochrome c oxidase (complex IV) biogenesis. We present a new pathogenic COA6 variant detected in a patient with neonatal hypertrophic cardiomyopathy and isolated complex IV deficiency. For the first time, clinical details about a COA6‐deficient patient are give...

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Veröffentlicht in:	Human mutation 2015-01, Vol.36 (1), p.34-38
Hauptverfasser:	Baertling, Fabian, A.M. van den Brand, Mariel, Hertecant, Jozef L., Al-Shamsi, Aisha, P. van den Heuvel, Lambert, Distelmaier, Felix, Mayatepek, Ertan, Smeitink, Jan A., Nijtmans, Leo G.J., Rodenburg, Richard J.T.
Format:	Artikel
Sprache:	eng
Schlagworte:	C1ORF31 Cardiomyopathy Cardiomyopathy, Hypertrophic - drug therapy Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - pathology COA6 Copper - administration & dosage Cytochrome cytochrome c oxidase Cytochrome-c Oxidase Deficiency - genetics Electron Transport Complex IV - genetics Electron Transport Complex IV - metabolism Female Fibroblasts HEK293 Cells Humans Infant, Newborn Mitochondria - metabolism Mitochondrial DNA Mutation OXPHOS
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