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.

Missaglia, S., Pegoraro, V., Marozzo, R., Tavian, D., Angelini, C., Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients, <<EUROPEAN JOURNAL OF TRANSLATIONAL MYOLOGY>>, 2020; 2020 (30): 116-120. [doi:10.4081/ejtm.2019.8880] [http://hdl.handle.net/10807/151169]

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

Sara Missaglia
Co-primo
Writing – Original Draft Preparation
;
Daniela Tavian
Penultimo
Writing – Review & Editing
;
2020

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.
Inglese
Missaglia, S., Pegoraro, V., Marozzo, R., Tavian, D., Angelini, C., Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients, <>, 2020; 2020 (30): 116-120. [doi:10.4081/ejtm.2019.8880] [http://hdl.handle.net/10807/151169]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/151169
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