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

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

Abstract 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...

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Bibliographic Details
Main Authors: Wei Chen, Youqiao Zhang, Yifeng Ni, Shaoyu Cai, Xin Zheng, Frank L. Mastaglia, Jingshan Wu
Format: Article
Language:English
Published: BMC 2019-12-01
Series:BMC Neurology
Subjects:
Late-onset multiple acyl-CoA dehydrogenase deficiency
Lipid storage myopathy
ETFDH gene
C.250G > A mutation
Southern min population
Epidemiology
Online Access:https://doi.org/10.1186/s12883-019-1562-5

Internet

https://doi.org/10.1186/s12883-019-1562-5

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