A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene

We report a family with riboflavin-reactive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) partially caused by a novel mutation in the electron transfer flavoprotein dehydrogenase gene (ETFDH). The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of th...

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Detalles Bibliográficos
Publicado en:J Int Med Res
Main Authors: Wu, Yue, Han, Jingzhe, Wang, Yaye, Zhang, Jinru, Song, Xueqin, Ji, Guang
Formato: Artigo
Idioma:Inglês
Publicado: SAGE Publications 2020
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7653293/
https://ncbi.nlm.nih.gov/pubmed/33131365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060520966499
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