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Int J Neurosci. 2018 Mar;128(3):291-294. doi: 10.1080/00207454.2017.1380641. Epub 2017 Oct 9.

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

Author information

1
a Department of Neurology , The First Affiliated Hospital of Zhengzhou University , Zhengzhou , P.R. China.

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.

KEYWORDS:

ETFDH; MADD; mutation; novel

PMID:
28914566
DOI:
10.1080/00207454.2017.1380641
[Indexed for MEDLINE]

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