{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:51:33Z","timestamp":1787064693144,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,2,10]],"date-time":"2009-02-10T00:00:00Z","timestamp":1234224000000},"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":[[2009,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Causative genes have been identified only in four types of lipid storage myopathies (LSMs):\n                    <jats:italic>SLC22A5<\/jats:italic>\n                    for primary carnitine deficiency (PCD);\n                    <jats:italic>ETFA<\/jats:italic>\n                    ,\n                    <jats:italic>ETFB<\/jats:italic>\n                    , and\n                    <jats:italic>ETFDH<\/jats:italic>\n                    for multiple acyl\u2010coenzyme A dehydrogenation deficiency (MADD);\n                    <jats:italic>PNPLA2<\/jats:italic>\n                    for neutral lipid storage disease with myopathy (NLSDM); and\n                    <jats:italic>ABHD5<\/jats:italic>\n                    for neutral lipid storage disease with ichthyosis. However, the frequency of these LSMs has not been determined. We found mutations in only 9 of 37 LSM patients (24%): 3 in\n                    <jats:italic>SLC22A5<\/jats:italic>\n                    ; 4 in MADD\u2010associated genes; and 2 in\n                    <jats:italic>PNPLA2<\/jats:italic>\n                    . This low frequency suggests the existence of other causative genes\n                    <jats:italic>.<\/jats:italic>\n                    Muscle coenzyme Q\n                    <jats:sub>10<\/jats:sub>\n                    levels were normal or only mildly reduced in two MADD patients, indicating that ETFDH mutations may not always be associated with CoQ\n                    <jats:sub>10<\/jats:sub>\n                    deficiency. The 2 patients with\n                    <jats:italic>PNPLA2<\/jats:italic>\n                    mutations had progressive, non\u2010episodic muscle disease with rimmed vacuoles. This suggests there is a different pathomechanism from other LSMs. Muscle Nerve 39: 333\u2013342, 2009\n                  <\/jats:p>","DOI":"10.1002\/mus.21167","type":"journal-article","created":{"date-parts":[[2009,2,11]],"date-time":"2009-02-11T15:35:05Z","timestamp":1234366505000},"page":"333-342","source":"Crossref","is-referenced-by-count":67,"title":["Clinical and genetic analysis of lipid storage myopathies"],"prefix":"10.1002","volume":"39","author":[{"given":"Aya","family":"Ohkuma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideo","family":"Sugie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"May Christine V.","family":"Malicdan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tokiko","family":"Fukuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunio","family":"Shimazu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Carlos","family":"L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michio","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko K.","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuya","family":"Nonaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,2,10]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20869"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(83)90142-0"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880030502"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1951"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)64849-5"},{"key":"e_1_2_7_7_2","first-page":"2357","volume-title":"The metabolic and molecular bases of inherited disease","author":"Freeman FE","year":"2001"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm054"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110355200"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2006.03.005"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/324121"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052536"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/5030"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000130486.54839.15"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.06.382"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm135"},{"key":"e_1_2_7_17_2","volume-title":"Molecular cloning: a laboratory manual","author":"Sambrook J","year":"2001"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0146-0005(99)80047-0"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/oby.2006.47"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83142-7"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(98)00118-0"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00308-X"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.8669"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1100747"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21167","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21167","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T02:10:12Z","timestamp":1696644612000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21167"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,10]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["10.1002\/mus.21167"],"URL":"https:\/\/doi.org\/10.1002\/mus.21167","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,10]]}}}