Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

BACKGROUND: Deficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is associated with multiple acyl-CoA dehydrogenase deficiency (MADD). This disorder is an autosomal recessive lipid storage myopathy (LSM) that exhibits a wide range of clinical features, including myopathy, weakness and...

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Detalles Bibliográficos
Autores principales: Missaglia, Sara, Tavian, Daniela, Moro, Laura, Angelini, Corrado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234560/
https://www.ncbi.nlm.nih.gov/pubmed/30424791
http://dx.doi.org/10.1186/s12944-018-0903-5

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