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

• Main Authors: Guorui Hu (Author), Jingxia Zeng (Author), Chunli Wang (Author), Wei Zhou (Author), Zhanjun Jia (Author), Jun Yang (Author), Bixia Zheng (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...