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

• मुख्य लेखकों: Guorui Hu (लेखक), Jingxia Zeng (लेखक), Chunli Wang (लेखक), Wei Zhou (लेखक), Zhanjun Jia (लेखक), Jun Yang (लेखक), Bixia Zheng (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2020-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...