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

作者：Chen, Min; Peng, Jing; Wei, Wei; Wang, Rui; Xu, Hongliang; Liu, Hongbo^*

来源：International Journal of Neuroscience, 2018, 128(3): 291-294.

DOI：10.1080/00207454.2017.1380641

• ETFDH
• MADD
• novel
• mutation

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. @@@ Results: The patient was identified to carry compound heterozygous mutations in ETFDH gene. Two missense mutations c.814 G > A and c.389 A > T were found. @@@ Conclusion: This is the first report of c.814G > A mutation in ETFDH in adult patient with MADD.

• 出版日期2018
• 单位郑州大学