{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T16:29:31Z","timestamp":1785774571401,"version":"3.56.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2020,7]]},"DOI":"10.1016\/j.nmd.2020.05.004","type":"journal-article","created":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T11:55:55Z","timestamp":1590062155000},"page":"566-571","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood"],"prefix":"10.1016","volume":"30","author":[{"given":"Chiara","family":"Pizzamiglio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayana","family":"Lahiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niranjanan","family":"Nirmalananthan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhrigu","family":"Sood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subash","family":"Somalanka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Ostrowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic Gerard","family":"O'Donovan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosaline","family":"Quinlivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2020.05.004_bib0001","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1007\/s10545-015-9827-7","article-title":"Acute rhabdomyolysis and inflammation","volume":"38","author":"Hamel","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nmd.2020.05.004_bib0002","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.plipres.2013.04.001","article-title":"Lipins, lipinopathies, and the modulation of cellular lipid storage and signaling","volume":"52","author":"Csaki","year":"2013","journal-title":"Prog Lipid Res"},{"key":"10.1016\/j.nmd.2020.05.004_bib0003","doi-asserted-by":"crossref","first-page":"3450","DOI":"10.1074\/jbc.M610745200","article-title":"Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns","volume":"282","author":"Donkor","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2020.05.004_bib0004","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ajhg.2008.09.002","article-title":"Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood","volume":"83","author":"Zeharia","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.nmd.2020.05.004_bib0005","doi-asserted-by":"crossref","first-page":"E1564","DOI":"10.1002\/humu.21282","article-title":"LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood","volume":"31","author":"Michot","year":"2010","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1016\/j.nmd.2020.05.004_bib0006","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1007\/s10545-012-9461-6","article-title":"Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia","volume":"35","author":"Michot","year":"2012","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nmd.2020.05.004_bib0007","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s13023-015-0264-3","article-title":"Rhabdomyolysis: a genetic perspective","volume":"10","author":"Scalco","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2020.05.004_bib0008","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2020.01.004","article-title":"A rare case of adult onset LPIN1 associated rhabdomyolysis","author":"Minton","year":"2020","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2020.05.004_bib0009","first-page":"85","article-title":"LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy","volume":"5","author":"Meijer","year":"2015","journal-title":"Mol Genet Metab Rep"},{"issue":"1","key":"10.1016\/j.nmd.2020.05.004_bib0010","first-page":"4","article-title":"Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency","volume":"46","author":"Stepien","year":"2019","journal-title":"JIMD Rep"},{"key":"10.1016\/j.nmd.2020.05.004_bib0011","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1074\/jbc.M609537200","article-title":"Insulin controls subcellular localization and multisite phosphorylation of the phosphatidic acid phosphatase, lipin 1","volume":"282","author":"Harris","year":"2007","journal-title":"J Biol Chem"},{"issue":"2","key":"10.1016\/j.nmd.2020.05.004_bib0012","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.cmet.2014.05.003","article-title":"Lipin-1 regulates autophagy clearance and intersects with statin drug effects in skeletal muscle","volume":"20","author":"Zhang","year":"2014","journal-title":"Cell Metab"},{"key":"10.1016\/j.nmd.2020.05.004_bib0013","doi-asserted-by":"crossref","first-page":"e1433","DOI":"10.1212\/WNL.0000000000008240","article-title":"Fat oxidation is impaired during exercise in lipin-1 deficiency","volume":"93","author":"Raaschou-Pedersen","year":"2019","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.nmd.2020.05.004_bib0014","doi-asserted-by":"crossref","first-page":"e99576","DOI":"10.15252\/embj.201899576","article-title":"Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy","volume":"38","author":"Rashid","year":"2019","journal-title":"EMBO J"},{"key":"10.1016\/j.nmd.2020.05.004_bib0015","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1038\/sj.emboj.7600672","article-title":"The yeast lipin Smp2 couples phospholipid biosynthesis to nuclear membrane growth","volume":"24","author":"Santos-Rosa","year":"2005","journal-title":"EMBO J"},{"key":"10.1016\/j.nmd.2020.05.004_bib0016","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.semcdb.2007.09.003","article-title":"The endoplasmic reticulum and the unfolded protein response","volume":"18","author":"Malhotra","year":"2007","journal-title":"Semin Cell Dev Biol"},{"issue":"12","key":"10.1016\/j.nmd.2020.05.004_bib0017","doi-asserted-by":"crossref","first-page":"472","DOI":"10.3390\/jcm7120472","article-title":"Lipid myopathies","volume":"7","author":"Pennisi","year":"2018","journal-title":"J Clin Med"},{"key":"10.1016\/j.nmd.2020.05.004_bib0018","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1055\/s-2007-973456","article-title":"Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood","volume":"30","author":"de Lonlay-Debeney","year":"1999","journal-title":"Neuropediatrics"},{"issue":"10","key":"10.1016\/j.nmd.2020.05.004_bib0019","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1111\/j.1469-8749.2012.04320.x","article-title":"Myopathic causes of exercise intolerance with rhabdomyolysis","volume":"54","author":"Quinlivan","year":"2012","journal-title":"Dev Med Child Neurol"},{"issue":"1-2","key":"10.1016\/j.nmd.2020.05.004_bib0020","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.mce.2009.08.031","article-title":"Sensory and sympathetic nervous system control of white adipose tissue lipolysis","volume":"318","author":"Bartness","year":"2010","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.nmd.2020.05.004_bib0021","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.cobeha.2016.01.011","article-title":"Impact of stress on metabolism and energy balance","volume":"9","author":"Rabasa","year":"2016","journal-title":"Curr Opin Behav Sci"},{"issue":"7","key":"10.1016\/j.nmd.2020.05.004_bib0022","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1177\/0883073813485132","article-title":"Rhabdomyolysis associated with human parvovirus B19 infection in a patient with Fukuyama-type congenital muscular dystrophy","volume":"29","author":"Ishikawa","year":"2014","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2020.05.004_bib0023","article-title":"A case report on parvovirus b19 associated myositis","volume":"2012","author":"Oliver","year":"2012","journal-title":"Case Rep Rheumatol"},{"issue":"3","key":"10.1016\/j.nmd.2020.05.004_bib0024","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/mus.24749","article-title":"A novel therapeutic approach for LPIN1 mutation associated rhabdomyolysis \u2013 the Austrian experience","volume":"52","author":"Pichler","year":"2015","journal-title":"Muscle and Nerve"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620301206?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620301206?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:09:28Z","timestamp":1760774968000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896620301206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":24,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["S0960896620301206"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2020.05.004","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2020,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2020.05.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown Copyright \u00a9 2020 Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}