{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:36:48Z","timestamp":1791214608113,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,11,21]],"date-time":"2012-11-21T00:00:00Z","timestamp":1353456000000},"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":[[2013,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction:<\/jats:title><jats:p>Camptocormia, or bent spine syndrome, is an abnormal posture consisting of forward flexion of the spine that disappears when a patient is supine. It is associated with a wide variety of myopathic disorders that affect paraspinal muscles, including inflammatory and inherited myopathies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>We describe a woman who presented with camptocormia in her eighth decade.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Skeletal muscle biopsy showed mild nonspecific changes, but her family history was significant for a son who died of Duchenne muscular dystrophy (DMD). Genetic analysis of <jats:italic>DMD<\/jats:italic> confirmed that she was a heterozygous carrier of a mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>In the absence of any alternate explanation, we interpret her symptoms to be a manifestation of her DMD carrier state. To our knowledge, this represents the first reported example of camptocormia as the presenting symptom in a carrier and suggests that a manifesting carrier state should be considered in the differential diagnosis for women with unexplained camptocormia. Muscle Nerve, 2013<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.23497","type":"journal-article","created":{"date-parts":[[2012,8,10]],"date-time":"2012-08-10T12:17:31Z","timestamp":1344601051000},"page":"124-127","source":"Crossref","is-referenced-by-count":8,"title":["Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy"],"prefix":"10.1002","volume":"47","author":[{"given":"Andrew R.","family":"Findlay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zarife","family":"Sahenk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin M.","family":"Flanigan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,21]]},"reference":[{"key":"e_1_2_3_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.6.821"},{"key":"e_1_2_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)90321-0"},{"key":"e_1_2_3_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01694.x"},{"key":"e_1_2_3_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03363.x"},{"key":"e_1_2_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.05.010"},{"key":"e_1_2_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(95)00018-7"},{"key":"e_1_2_3_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.60.1.51"},{"key":"e_1_2_3_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.3023.621"},{"key":"e_1_2_3_10_2","doi-asserted-by":"publisher","DOI":"10.1159\/000314897"},{"key":"e_1_2_3_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-300311"},{"key":"e_1_2_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10016"},{"key":"e_1_2_3_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000171857.09079.9f"},{"key":"e_1_2_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(93)90120-9"},{"key":"e_1_2_3_15_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.58"},{"key":"e_1_2_3_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)10028-4"},{"key":"e_1_2_3_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00343858"},{"key":"e_1_2_3_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10056"},{"key":"e_1_2_3_19_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198901193200302"},{"key":"e_1_2_3_20_2","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2011.26.4.587"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23497","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.23497","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T03:27:40Z","timestamp":1697513260000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.23497"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,21]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["10.1002\/mus.23497"],"URL":"https:\/\/doi.org\/10.1002\/mus.23497","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,21]]}}}