https://doi.org/10.4081/ejtm.2019.8880
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients
Submitted: 5 February 2020
Accepted: 15 February 2020
Published: 1 April 2020
Accepted: 15 February 2020
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare fatty acids oxidation disorder which is often associated with deficiency of electron transfer flavoprotein dehydrogenase (ETFDH). In this study we reported clinical features and evaluation of expression profile of circulating muscle-specific miRNAs (myomiRs) in two MADD patients carrying different ETFDH gene mutations. Patient 1 was a compound heterozygote for two missense mutations. She showed a late onset MADD clinical phenotype and a significant increase of serum myomiRs. Patient 2, carrying a missense and a frameshift mutation, displayed early onset symptoms and a slight increase of some serum myomiRs.
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How to Cite
Missaglia, S., Pegoraro, V., Marozzo, R., Tavian, D., & Angelini, C. (2020). Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients. European Journal of Translational Myology, 30(1), 116–120. https://doi.org/10.4081/ejtm.2019.8880
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