A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

摘要

Aim of the study: To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Materials and methods: The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed.