{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:58:24Z","timestamp":1777395504878,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,2,11]],"date-time":"2015-02-11T00:00:00Z","timestamp":1423612800000},"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":[[2015,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. These disorders of fatty acid metabolism and intracellular triglyceride degradation cause marked fat deposition and damage to muscle cells. <jats:italic>Methods<\/jats:italic>: We describe a rapidly progressive myopathy in a previously healthy 33\u2010year\u2010old woman. Over 4 months, she developed a proximal and axial myopathy associated with diffuse myalgia and dysphagia, ultimately leading to respiratory failure and death. <jats:italic>Results<\/jats:italic>: Muscle biopsy showed massive accumulation of lipid. Plasma acylcarnitine and urine organic acid analysis was consistent with MADD. This was confirmed by molecular genetic testing, which revealed 2 pathogenic mutations in the <jats:italic>ETFDH<\/jats:italic> gene. <jats:italic>Conclusions<\/jats:italic>: This report illustrates a late\u2010onset case of MADD and reviews the differential diagnosis and evaluation of patients with proximal myopathy and excessive accumulation of lipid on muscle biopsy. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>52<\/jats:bold>: 289\u2013293, 2015<\/jats:p>","DOI":"10.1002\/mus.24552","type":"journal-article","created":{"date-parts":[[2014,12,30]],"date-time":"2014-12-30T20:45:54Z","timestamp":1419972354000},"page":"289-293","source":"Crossref","is-referenced-by-count":25,"title":["Fulminant lipid storage myopathy due to multiple acyl\u2010coenzyme a dehydrogenase deficiency"],"prefix":"10.1002","volume":"52","author":[{"given":"Charles H.","family":"Whitaker","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Medicine Hospital for Special Care 2150 Corbin Avenue New Britain Connecticut 06053 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin J.","family":"Felice","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Medicine Hospital for Special Care 2150 Corbin Avenue New Britain Connecticut 06053 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Silvers","sequence":"additional","affiliation":[{"name":"Department of Neurology Hartford Hospital Hartford Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Wu","sequence":"additional","affiliation":[{"name":"Deparment of Pathology University of Connecticut Health Center Farmington Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,11]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"469","volume-title":"A practical approach","author":"Dubowitz V","year":"2007"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e32830dd5a6"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.06.018"},{"key":"e_1_2_5_5_1","first-page":"2357","volume-title":"The metabolic and molecular bases of inherited disease","author":"Freeman FE","year":"2001"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10226"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm054"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00138-5"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2010.01.033"},{"key":"e_1_2_5_10_1","first-page":"1587","volume-title":"Myology","author":"Di Donato S","year":"2004"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1042\/bse0420089"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.57.070188.001401"},{"key":"e_1_2_5_13_1","volume-title":"Biochemistry","author":"Berg JM","year":"2002"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-010-0154-y"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10226"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm054"},{"key":"e_1_2_5_17_1","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1017\/CBO9780511674747.024","volume-title":"Disorders of voluntary muscles","author":"Vissing J","year":"2010"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000116817"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197912273012601"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198210000-00012"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.008"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00075197-200211000-00002"},{"key":"e_1_2_5_23_1","first-page":"351","article-title":"State of the art in muscle lipid diseases","author":"Liang WC","year":"2010","journal-title":"Acta Myol"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.10"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-011-0725-7"}],"container-title":["Muscle &amp; 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