A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report

A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder characterized by a wide range of clinical features, including muscle weakness, hypoglycemia, metabolic acidosis, and multisystem dysfunctions. Loss-of-function mutations in the electron transfer flavopro...

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Bibliographic Details
Main Authors: Guorui Hu, Jingxia Zeng, Chunli Wang, Wei Zhou, Zhanjun Jia, Jun Yang, Bixia Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-03-01
Series:Frontiers in Pediatrics
Subjects:
multiple acyl-CoA dehydrogenase deficiency
whole exome sequencing
ETFDH
synonymous variant
exon skipping
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00118/full

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https://www.frontiersin.org/article/10.3389/fped.2020.00118/full

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