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Article

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

BMC neurology - 18 Dec 2019

Chen Wei, Zhang Youqiao, Ni Yifeng, Cai Shaoyu, Zheng Xin, Mastaglia Frank L, Wu Jingshan

Abstract excerpt

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 homozygous c.250G > A EFTDH mutation and review the genetic epidemiology of the c.250G > A mutation. CASE PRESENTATION:...

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Identifiers

PMID: 31852447
DOI: 10.1186/s12883-019-1562-5
PMCID: PMC6921586

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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