Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients
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-specifi...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2020-03-01
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| Series: | European Journal of Translational Myology |
| Subjects: | |
| Online Access: | https://pagepressjournals.org/index.php/bam/article/view/8880 |
| Summary: | 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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| ISSN: | 2037-7452 2037-7460 |