Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients

Sara Missaglia, Valentina Pegoraro, Roberta Marozzo, Daniela Tavian, Corrado Angelini

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

5 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)116-120
Numero di pagine5
RivistaEuropean Journal of Translational Myology
Stato di pubblicazionePubblicato - 2020


  • Multiple acyl-CoA dehydrogenase deficiency
  • fatty acids oxidation disorder
  • myomiRs
  • myopathy


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