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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

5 Citazioni (Scopus)

Abstract

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
Volume2020
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

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

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