High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood-Reference-Cited by-同舟云学术

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

Published:2015-12-16 Issue:8 Volume:24 Page:1112-1116
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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^ORCID,Rötig Agnès

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015264.pdf

Reference11 articles.

1. Gerards M, van den Bosch BJ, Danhauser K et al: Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain 2011; 134: 210–219.

2. Haack TB, Danhauser K, Haberberger B et al: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 2010; 42: 1131–1134.

3. Haack TB, Haberberger B, Frisch EM et al: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet 2012; 49: 277–283.

4. Nouws J, Nijtmans L, Houten SM et al: Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab 2010; 12: 283–294.

5. Scholte HR, Busch HF, Bakker HD, Bogaard JM, Luyt-Houwen IE, Kuyt LP : Riboflavin-responsive complex I deficiency. Biochim Biophys Acta 1995; 1271: 75–83.

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