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...

Popoln opis

Bibliografske podrobnosti

Principais autores:	Wei Chen, Youqiao Zhang, Yifeng Ni, Shaoyu Cai, Xin Zheng, Frank L. Mastaglia, Jingshan Wu
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2019-12-01
Serija:	BMC Neurology
Teme:	Late-onset multiple acyl-CoA dehydrogenase deficiency Lipid storage myopathy ETFDH gene C.250G > A mutation Southern min population Epidemiology
Online dostop:	https://doi.org/10.1186/s12883-019-1562-5
Oznake:	Označite Brez oznak, prvi označite!