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

Authors :
Chen, Min
Peng, Jing
Wei, Wei
Wang, Rui
Xu, Hongliang
Liu, Hongbo
Source :
International Journal of Neuroscience. Mar2018, Vol. 128 Issue 3, p291-294. 4p.
Publication Year :
2018

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00207454
Volume :
128
Issue :
3
Database :
Academic Search Index
Journal :
International Journal of Neuroscience
Publication Type :
Academic Journal
Accession number :
127094950
Full Text :
https://doi.org/10.1080/00207454.2017.1380641