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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:BMC Neurol
Hlavní autoři: Chen, Wei, Zhang, Youqiao, Ni, Yifeng, Cai, Shaoyu, Zheng, Xin, Mastaglia, Frank L., Wu, Jingshan
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6921586/
https://ncbi.nlm.nih.gov/pubmed/31852447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-019-1562-5
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky