Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency

• Autori principali: Gaopin Yuan (Autore), Xiaohong Zhang (Autore), Tingli Chen (Autore), Jiansheng Lin (Autore)
• Natura: Libro
• Pubblicazione: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

This article reports the characterization of two siblings diagnosed with late-onset multiple Acyl-CoA dehydrogenase deficiency (MADD) caused by mutations in electron transfer flavoprotein(ETF)-ubiquinone oxidoreductase (ETF-QO) (ETFDH) gene. Whole exome sequencing (WES) was performed in the proband&...