A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

Here we report a patient with a new pathogenic mutation in ACAD9. Shortly after birth she presented with respiratory insufficiency and a high lactate level. At age 7 weeks, she was diagnosed with severe hypertrophic cardiomyopathy and she suffered from muscle weakness and hypotonia. Her condition de...

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Bibliografische gegevens
Hoofdauteurs: Nouws, Jessica, Wibrand, Flemming, van den Brand, Mariël, Venselaar, Hanka, Duno, Morten, Lund, Allan M., Trautner, Simon, Nijtmans, Leo, Østergard, Elsebet
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer International Publishing 2013
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897792/
https://ncbi.nlm.nih.gov/pubmed/23996478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_242
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