Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.

Almomani, Rowida; Herkert, Johanna C; Posafalvi, Anna; Post, Jan G; Boven, Ludolf G; van der Zwaag, Paul A; Willems, Peter H G M; van Veen-Hof, Ingrid H; Verhagen, Judith M A; Wessels, Marja W; Nikkels, Peter G J; Wintjes, Liesbeth T; van den Berg, Maarten P; Sinke, Richard J; Rodenburg, Richard J; Niezen-Koning, Klary E; van Tintelen, J Peter; Jongbloed, Jan D H

Almomani, Rowida; Herkert, Johanna C; Posafalvi, Anna; Post, Jan G; Boven, Ludolf G; van der Zwaag, Paul A; Willems, Peter H G M; van Veen-Hof, Ingrid H; Verhagen, Judith M A; Wessels, Marja W; Nikkels, Peter G J; Wintjes, Liesbeth T; van den Berg, Maarten P; Sinke, Richard J; Rodenburg, Richard J; Niezen-Koning, Klary E; van Tintelen, J Peter; Jongbloed, Jan D H.

Affiliation

Almomani R; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Herkert JC; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan.
Posafalvi A; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands j.c.herkert@umcg.nl.
Post JG; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Boven LG; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van der Zwaag PA; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Willems PHGM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van Veen-Hof IH; Department of Biochemistry, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Verhagen JMA; Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Wessels MW; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Nikkels PGJ; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Wintjes LT; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
van den Berg MP; Department of Paediatrics, Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Sinke RJ; Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Rodenburg RJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Niezen-Koning KE; Department of Paediatrics, Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
van Tintelen JP; Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Jongbloed JDH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

J Med Genet ; 57(1): 23-30, 2020 01.

Article de En | MEDLINE | ID: mdl-31494578

Sujet(s)
Mots clés

cardiomyopathy; clinical genetics; genetics

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Superoxide dismutase / Cardiomyopathie dilatée / Mutation faux-sens / Myocarde Type d'étude: Etiology_studies / Prognostic_studies Limites: Female / Humans / Infant / Newborn Langue: En Journal: J Med Genet Année: 2020 Type de document: Article Pays d'affiliation: Pays-Bas Pays de publication: Royaume-Uni

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