High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

Acyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause of early-onset cardiac hypertrophy and mitochondrial respiratory chain complex I deficiency in early childhood. We retrospectively studied a series of 20 unrelated children with cardiac hypertrophy and isolat...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: Collet, Marie, Assouline, Zahra, Bonnet, Damien, Rio, Marlène, Iserin, Franck, Sidi, Daniel, Goldenberg, Alice, Lardennois, Caroline, Metodiev, Metodi Dimitrov, Haberberger, Birgit, Haack, Tobias, Munnich, Arnold, Prokisch, Holger, Rötig, Agnès
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2016
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4970679/
https://ncbi.nlm.nih.gov/pubmed/26669660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.264
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