{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T06:35:36Z","timestamp":1773297336500,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,9,13]],"date-time":"2012-09-13T00:00:00Z","timestamp":1347494400000},"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":[[2012,10]]},"abstract":"Abstract<\/jats:title>Introduction:<\/jats:italic> We established a colony of dogs that harbor an X\u2010linked MTM1<\/jats:italic> missense mutation.Muscle from affected male dogs exhibits reduction and altered localization of the MTM1<\/jats:italic> gene product, myotubularin, and provides a model analogous to X\u2010linked myotubular myopathy (XLMTM). Methods:<\/jats:italic> We studied hindlimb muscle function in age\u2010matched canine XLMTM genotypes between ages 9 and 18 weeks. Results:<\/jats:italic> By the end of the study, affected dogs produce only \u223c15% of the torque generated by normals or carriers (0.023 \u00b1 0.005 vs. 0.152 \u00b1 0.007 and 0.154 \u00b1 0.003 N\u2010m\/kg body mass, respectively, P<\/jats:italic> < 0.05) and are too weak to stand unassisted. At this age, XLMTM dogs also demonstrate an abnormally low twitch:tetanus ratio, a right\u2010shifted torque\u2010frequency relationship and an increase in torque during repetitive stimulation (P<\/jats:italic> < 0.05). Conclusions:<\/jats:italic> We hypothesize that muscle weakness results from impaired excitation\u2010contraction (E\u2010C) coupling. Interventions that improve E\u2010C coupling might be translated from the XLMTM dog model to patients. Muscle Nerve 46: 588\u2013591, 2012<\/jats:p>","DOI":"10.1002\/mus.23463","type":"journal-article","created":{"date-parts":[[2012,5,22]],"date-time":"2012-05-22T19:36:06Z","timestamp":1337715366000},"page":"588-591","source":"Crossref","is-referenced-by-count":22,"title":["Muscle function in A canine model of X\u2010linked myotubular myopathy"],"prefix":"10.1002","volume":"46","author":[{"given":"Robert W.","family":"Grange","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jon","family":"Doering","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie N.","family":"Holder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuan","family":"Guan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Goddard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Tegeler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan H.","family":"Beggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin K.","family":"Childers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,9,13]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/108.4.941"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-175"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70417-8"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199603)16:3<231::AID-PD842>3.0.CO;2-M"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-26"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(01)02245-4"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1003677107"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pmr.2011.11.017"},{"key":"e_1_2_6_10_2","first-page":"pii 2623","article-title":"In vivo canine muscle function assay","author":"Childers MK","year":"2011","journal-title":"J Vis Exp"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21699"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(99)00118-5"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000372"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.212498399"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0900705106"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00370.2010"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.04-1587fje"}],"container-title":["Muscle & Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23463","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.23463","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T03:53:10Z","timestamp":1696909990000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.23463"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,13]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1002\/mus.23463"],"URL":"https:\/\/doi.org\/10.1002\/mus.23463","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,13]]}}}