{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:45:31Z","timestamp":1761648331381},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,3,7]],"date-time":"2016-03-07T00:00:00Z","timestamp":1457308800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>Mutations in the gene encoding caveolin\u20103 (<jats:italic>CAV3<\/jats:italic>) can cause a broad spectrum of clinical phenotypes, including limb girdle muscular dystrophy, rippling muscle disease, distal myopathy (MD), idiopathic persistent elevation of serum creatine kinase and cardiomyopathy. MD is a relatively rare subtype of caveolinopathy. Here, we report a sporadic case of a middle\u2010aged female Chinese patient with MD in which a <jats:italic>CAV3<\/jats:italic> mutation was identical to that previously reported in cases of rippling muscle disease. T1\u2010weighted enhanced skeletal muscle MRI of the lower limbs showed an abnormal signal in the distal and proximal muscles. A muscle biopsy revealed moderate dystrophic changes, and immunohistochemical staining showed reduced CAV\u20103 expression in the plasmalemma. Genetic analysis revealed a heterozygous c.136G\u00a0&gt;\u00a0A (p.Ala46Thr) <jats:italic>CAV3<\/jats:italic> mutation that appeared to be <jats:italic>de novo<\/jats:italic> because it was absent from the patient's parents. This study suggested that the <jats:italic>CAV3<\/jats:italic> c.136G\u00a0&gt;\u00a0A (p.Ala46Thr) mutation can cause MD as well as different phenotypes in different individuals, suggesting that additional unknown loci must affect the disease phenotypes.<\/jats:p>","DOI":"10.1111\/neup.12297","type":"journal-article","created":{"date-parts":[[2016,3,7]],"date-time":"2016-03-07T13:01:13Z","timestamp":1457355673000},"page":"485-489","source":"Crossref","is-referenced-by-count":9,"title":["Mutation in the caveolin\u20103 gene causes asymmetrical distal myopathy"],"prefix":"10.1111","volume":"36","author":[{"given":"Juanjuan","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University Shenzhen Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenshuang","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University Shenzhen Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunxi","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University Shenzhen Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University Shenzhen Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiou","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University Shenzhen Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxin","family":"Tong","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University Shenzhen Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890410018899"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12369"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.103"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3700713"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-005-0025-0"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0955-0674(96)80033-0"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000180963.85963.73"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.2.323"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2008.09.009"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20119"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.04.006"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.12.001"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2014.04.004"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.07.006"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-307051"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.54.6.494"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23831"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22282"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.4103\/0976-3147.158798"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-015-0449-3"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000097320.35982.03"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fneup.12297","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.12297","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T13:00:01Z","timestamp":1696510801000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/neup.12297"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,7]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/neup.12297"],"URL":"https:\/\/doi.org\/10.1111\/neup.12297","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"value":"0919-6544","type":"print"},{"value":"1440-1789","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,7]]}}}