{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T04:20:10Z","timestamp":1773807610669,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,28]],"date-time":"2015-02-28T00:00:00Z","timestamp":1425081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP14066"],"award-info":[{"award-number":["GGP14066"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: The <jats:italic>PNPLA2<\/jats:italic> gene encodes the enzyme adipose triglyceride lipase (ATGL), which catalyzes the first step of triglyceride hydrolysis. Mutations in this gene are associated with an autosomal recessive lipid\u2010storage myopathy, neutral lipid\u2010storage disease with myopathy (NLSD\u2010M). <jats:italic>Results<\/jats:italic>: A 72\u2010year\u2010old woman had late\u2010onset myopathy, with mild weakness, cramps, and exercise intolerance. Electromyography showed myotonic discharges. A few leukocytes showed lipid droplets (Jordan anomaly). Deltoid and quadriceps muscle biopsies showed no lipid storage. Genetic analysis of <jats:italic>PNPLA2<\/jats:italic> detected 2 heterozygous mutations: c.497A&gt;G (p.Asp166Gly) in exon 5 and c.1442C&gt;T (p.Pro481Leu) in exon 10. Expression of mutant <jats:italic>PNPLA2<\/jats:italic> plasmids in HeLa cells resulted in impaired enzyme activity, confirming the pathological effects of the mutations. <jats:italic>Conclusions<\/jats:italic>: In this case of NLSD\u2010M, the myopathy may be due to a metabolic defect rather than to a mechanical effect of lipid storage. This suggests that more than 1 mechanism contributes to muscle damage in NLSD\u2010M. <jats:italic>Muscle Nerve<\/jats:italic> 51: 609\u2013613, 2015<\/jats:p>","DOI":"10.1002\/mus.24477","type":"journal-article","created":{"date-parts":[[2014,10,7]],"date-time":"2014-10-07T08:37:05Z","timestamp":1412671025000},"page":"609-613","source":"Crossref","is-referenced-by-count":23,"title":["A myopathy with unusual features caused by <i>PNPLA2<\/i> gene mutations"],"prefix":"10.1002","volume":"51","author":[{"given":"Elena M.","family":"Pennisi","sequence":"first","affiliation":[{"name":"Division of Neurology San Filippo Neri Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Missaglia","sequence":"additional","affiliation":[{"name":"Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University of the Sacred Heart Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Dimauro","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Bernardi","sequence":"additional","affiliation":[{"name":"Division of Neurology San Filippo Neri Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hasan Orhan","family":"Akman","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Tavian","sequence":"additional","affiliation":[{"name":"Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University of the Sacred Heart Milan Italy"},{"name":"Psychology Department Catholic University of the Sacred Heart Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.00099.2009"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1951"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/324121"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-33"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2006.044917"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds388"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001239"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.10.1106"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.2600"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.256"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2011.12.018"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.631"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410070104"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.04.004"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24477","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24477","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:28:42Z","timestamp":1695572922000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24477"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,28]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1002\/mus.24477"],"URL":"https:\/\/doi.org\/10.1002\/mus.24477","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,28]]}}}