{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:22:45Z","timestamp":1777728165285,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:p>We report a family with riboflavin-reactive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) partially caused by a novel mutation in the electron transfer flavoprotein dehydrogenase gene (ETFDH). The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. Laboratory examination and electromyography suggested a muscle disease of the lipid storage myopathies. This was confirmed by a muscle biopsy that revealed lipid deposition in the muscle fibers. The proband\u2019s sister previously had a similar disease, so the family underwent genetic testing. This revealed complex heterozygous ETFDH mutations c.389A\u2009&gt;\u2009T (p. D130V) and c.1123C\u2009&gt;\u2009A (p. P375T) in the proband and her sister, of which c.1123C\u2009&gt;\u2009A (p. P375T) is a novel pathogenic mutation. The proband was treated with riboflavin and changes in physical symptoms and laboratory tests were evaluated before and after treatment. The discovery of a novel locus further expands the ETFDH mutation spectrum and suggests that genotyping is vital for early detection of RR-MADD as it can greatly improve the prognosis.<\/jats:p>","DOI":"10.1177\/0300060520966499","type":"journal-article","created":{"date-parts":[[2020,11,2]],"date-time":"2020-11-02T04:03:01Z","timestamp":1604289781000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene"],"prefix":"10.1177","volume":"48","author":[{"given":"Yue","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Neurology, The Second Hospital of Hebei Medical University, Hebei, Shijiazhuang, P. R. China"},{"name":"Neurological Laboratory of Hebei Province, Shijiazhuang, Hebei, P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6086-7533","authenticated-orcid":false,"given":"Jingzhe","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Neurology, Harrison International Peace Hospital, Hebei, Hengshui, P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaye","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Hospital of Hebei Medical University, Hebei, Shijiazhuang, P. R. China"},{"name":"Neurological Laboratory of Hebei Province, Shijiazhuang, Hebei, P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinru","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Hospital of Hebei Medical University, Hebei, Shijiazhuang, P. R. China"},{"name":"Neurological Laboratory of Hebei Province, Shijiazhuang, Hebei, P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0463-8450","authenticated-orcid":false,"given":"Xueqin","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Hospital of Hebei Medical University, Hebei, Shijiazhuang, P. R. China"},{"name":"Neurological Laboratory of Hebei Province, Shijiazhuang, Hebei, P. R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Hospital of Hebei Medical University, Hebei, Shijiazhuang, P. R. China"},{"name":"Neurological Laboratory of Hebei Province, Shijiazhuang, Hebei, P. R. 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