Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients

Author:

Dewulf Joseph P.,Barrea Catherine,Vincent Marie-Françoise,De Laet Corinne,Van Coster Rudy,Seneca Sara,Marie Sandrine,Nassogne Marie-Cécile

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference18 articles.

1. High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood;Collet;Eur. J. Hum. Genet.,2015

2. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease;Distelmaier;Brain,2009

3. Mitochondrial encephalomyopathy due to a novel mutation in ACAD9;Garone,2013

4. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene;Gerards;Brain,2011

5. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency;Haack;Nat. Genet.,2010

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