Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

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

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.

Affiliation

Baertling F; Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, GA Nijmegen, The Netherlands; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany.

Hum Mutat ; 36(1): 34-8, 2015 Jan.

Article in En | MEDLINE | ID: mdl-25339201

Subject(s)

Cardiomyopathy, Hypertrophic/genetics; Cytochrome-c Oxidase Deficiency/genetics; Electron Transport Complex IV/genetics; Cardiomyopathy, Hypertrophic/drug therapy; Cardiomyopathy, Hypertrophic/pathology; Copper/administration & dosage; Electron Transport Complex IV/metabolism; Female; HEK293 Cells; Humans; Infant, Newborn; Mitochondria/metabolism

Key words

C1ORF31; COA6; OXPHOS; cardiomyopathy; cytochrome c oxidase

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Full text: 1 Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / Electron Transport Complex IV / Cytochrome-c Oxidase Deficiency Language: En Journal: Hum Mutat Year: 2015 Type: Article Affiliation country: Germany

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