{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:58:21Z","timestamp":1777395501170,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,1,31]],"date-time":"2014-01-31T00:00:00Z","timestamp":1391126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Glutaric aciduria type II (GAII) is a rare autosomal recessive disorder with variable clinical course. The disorder is caused by a defect in the mitochondrial electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase (ETFDH). <jats:italic>Methods<\/jats:italic>: We performed clinical characterization, brain and whole body MRI, muscle histopathology, and genetic analysis of the <jats:italic>ETFDH<\/jats:italic> gene in a young woman. <jats:italic>Results<\/jats:italic>: She presented with rhabdomyolysis and severe quadriparesis. We identified a novel homozygous missense mutation in <jats:italic>ETFDH<\/jats:italic> (c.1544G&gt;T, p.Ser515Ile). Body fat MRI revealed a large amount of subcutaneous fat but no increase in visceral fat despite steatosis of liver and muscle. Diffusion tensor imaging (DTI) of cerebral MRI revealed reduced directionality of the white matter tracts. Histopathological findings showed lipid storage myopathy. <jats:italic>Conclusions<\/jats:italic>: In this study, we highlight diagnostic clues and body fat MRI in this rare metabolic disorder. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>49<\/jats:bold>:446\u2013450, 2013<\/jats:p>","DOI":"10.1002\/mus.23979","type":"journal-article","created":{"date-parts":[[2013,7,29]],"date-time":"2013-07-29T04:43:16Z","timestamp":1375072996000},"page":"446-450","source":"Crossref","is-referenced-by-count":14,"title":["Novel <i>ETFDH<\/i> mutation and imaging findings in an adult with glutaric aciduria type II"],"prefix":"10.1002","volume":"49","author":[{"given":"Angela","family":"Rosenbohm","sequence":"first","affiliation":[{"name":"Department of Neurology University of Ulm Oberer Eselsberg 45 89081 Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigurd D.","family":"S\u00fcssmuth","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Ulm Oberer Eselsberg 45 89081 Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Kassubek","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Ulm Oberer Eselsberg 45 89081 Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans\u2010Peter","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Ulm Oberer Eselsberg 45 89081 Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Pontes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Heidelberg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medizinisch Genetisches Zentrum MGZ Munich  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie","family":"Bulst","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medizinisch Genetisches Zentrum MGZ Munich  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert C.","family":"Ludolph","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Ulm Oberer Eselsberg 45 89081 Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elmar","family":"Pinkhardt","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Ulm Oberer Eselsberg 45 89081 Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.008"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.1549"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_5_1","first-page":"e69","article-title":"MR imaging findings of glutaric aciduria type II","volume":"51","author":"Mumtaz HA","year":"2010","journal-title":"Singapore Med J"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-11-29"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1467-789X.2012.01032.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.7.957"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm135"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.11.2153"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.3.367"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23979","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23979","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.23979","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T12:44:01Z","timestamp":1736426641000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.23979"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,31]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/mus.23979"],"URL":"https:\/\/doi.org\/10.1002\/mus.23979","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,31]]}}}