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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Enregistré dans:
Détails bibliographiques
Publié dans:Front Pediatr
Auteurs principaux: Hu, Guorui, Zeng, Jingxia, Wang, Chunli, Zhou, Wei, Jia, Zhanjun, Yang, Jun, Zheng, Bixia
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2020
Sujets:
Pediatrics
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7119189/
https://ncbi.nlm.nih.gov/pubmed/32292771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00118
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