Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a riboflavin-responsive lipid-storage myopathy caused by mutations in the EFTA, EFTB or ETFDH genes. We report a Chinese family of Southern Min origin with two affected siblings with late-onset riboflavin-responsive MADD due to a homoz...

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Detalles Bibliográficos
Autores principales: Chen, Wei, Zhang, Youqiao, Ni, Yifeng, Cai, Shaoyu, Zheng, Xin, Mastaglia, Frank L., Wu, Jingshan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921586/
https://www.ncbi.nlm.nih.gov/pubmed/31852447
http://dx.doi.org/10.1186/s12883-019-1562-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921586/
https://www.ncbi.nlm.nih.gov/pubmed/31852447
http://dx.doi.org/10.1186/s12883-019-1562-5

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