{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T15:56:40Z","timestamp":1788278200179,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,25]],"date-time":"2017-04-25T00:00:00Z","timestamp":1493078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Immune\u2010mediated necrotizing myopathies (IMNMs) are characterized by progressive weakness, elevated serum creatine kinase levels, and necrotizing myopathic features on muscle biopsy. Presence of highly specific autoantibodies against signal recognition particle (SRP) or 3\u2010hydroxy\u20103\u2010methylglutaryl\u2010 coenzyme A reductase (HMGCR) can aid in recognition and confirmation of IMNMs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study we describe a boy with HMGCR\u2010positive necrotizing myopathy and highlight the clinical features of the patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In contrast to most adults, the patient described had a more indolent disease course, reminiscent of a muscular dystrophy. Intravenous immunoglobulin monotherapy resulted in a dramatic clinical response with return to normal strength.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Systematic consideration of IMNMs and testing for relevant autoantibodies in children with suspected but genetically unconfirmed muscular dystrophy may help improve diagnostic accuracy and allow timely treatment with potentially highly effective immunotherapies.<jats:italic>Muscle Nerve<\/jats:italic><jats:bold>56<\/jats:bold>: 175\u2013179, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25567","type":"journal-article","created":{"date-parts":[[2017,1,9]],"date-time":"2017-01-09T08:22:42Z","timestamp":1483950162000},"page":"1177-1181","source":"Crossref","is-referenced-by-count":35,"title":["Anti\u20133\u2010hydroxy\u20103\u2010methylglutaryl\u2010coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child"],"prefix":"10.1002","volume":"56","author":[{"given":"Payam","family":"Mohassel","sequence":"first","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Reghan","family":"Foley","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre R.","family":"Fequiere","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology University of Alabama at Birmingham Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Pak","sequence":"additional","affiliation":[{"name":"Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health Building 50, Room 1146, Bethesda Maryland 20892 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew L.","family":"Mammen","sequence":"additional","affiliation":[{"name":"Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health Building 50, Room 1146, Bethesda Maryland 20892 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/BOR.0000000000000224"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24642"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.30156"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/acr.20662"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.27572"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000000028"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.24077"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24541"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1515161"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1506163"},{"key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1002\/acr.21671","article-title":"Increased frequency of DRB1*11:01 in anti\u2010hydroxymethylglutaryl\u2010coenzyme A reductase\u2010associated autoimmune myopathy","volume":"64","author":"Mammen AL","year":"2012","journal-title":"Arthritis Care Res"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13424"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02229715"},{"key":"e_1_2_7_15_1","first-page":"134705","article-title":"Morphoea with myositis: a rare association","volume":"2011","author":"Sommerlad M","year":"2011","journal-title":"Case Rep Rheumatol"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2002.10493.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000019"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.25567","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.25567","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T17:18:23Z","timestamp":1718990303000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.25567"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,25]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1002\/mus.25567"],"URL":"https:\/\/doi.org\/10.1002\/mus.25567","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,25]]}}}