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Article

Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Journal of inherited metabolic disease - 1 May 2014

Xi Jianying, Wen Bing, Lin Jie, Zhu Wenhua, Luo Sushan, Zhao Chongbo, Li Duoling, Lin Pengfei, Lu Jiahong, Yan Chuanzhu

Abstract excerpt

The major cause of lipid storage myopathies (LSM) in China is multiple acyl-CoA dehydrogenase deficiency (MADD) caused by ETFDH mutations. We here present an analysis of the spectrum of ETFDH mutations in the largest cohort of patients with MADD (90 unrelated patients). We identified 61 ETFDH mutations, including 31 novel mutations, which were widely distributed within the coding sequence. Three frequent...

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Source

Identifiers

PMID: 24357026
DOI: 10.1007/s10545-013-9671-6

Genes

ETFDH
MADD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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