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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...
Autores principales: | Hu, Guorui, Zeng, Jingxia, Wang, Chunli, Zhou, Wei, Jia, Zhanjun, Yang, Jun, Zheng, Bixia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7119189/ https://www.ncbi.nlm.nih.gov/pubmed/32292771 http://dx.doi.org/10.3389/fped.2020.00118 |
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