{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:14:40Z","timestamp":1786119280485,"version":"build-2736575974"},"reference-count":5,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title\/>\n                    <jats:p>We describe the case of a 24-year-old Japanese man suffering from obesity, mental retardation, muscle weakness, camptodactyly, syndactyly, and a urinary tract cleft. His muscle weakness, which was slightly distally dominant in the extremities, was almost static and showed slow progression for several years. He had normal blood chromosomes (46, XY) and showed normal levels of sex hormones. A needle electromyographic examination of the upper- and lower-limb muscles revealed a reinnervation pattern with large-amplitude, long-duration motor unit potentials. A muscle biopsy also showed denervation and reinnervation patterns, with small-group atrophy and type grouping, with numerous small, angulated fibers. Our findings suggest that these neuromuscular features of the Camera-Marugo-Cohen syndrome are caused by neurogenic changes rather than myogenic changes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1097\/cnd.0b013e31815e5fee","type":"journal-article","created":{"date-parts":[[2009,3,5]],"date-time":"2009-03-05T08:16:48Z","timestamp":1236241008000},"page":"345-347","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Neuromuscular Features in the Camera-Marugo-Cohen Syndrome"],"prefix":"10.1097","volume":"9","author":[{"given":"Norio","family":"Ohkoshi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayoko","family":"Matsuno-Yoshida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiko","family":"Watanabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Tamaoka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-3-20240808","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1002\/ajmg.1320470605","article-title":"Another postnatal onset obesity syndrome.","volume":"47","author":"Camera","year":"1993","journal-title":"Am J Med Genet"},{"key":"R2-3-20240808","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<208::AID-AJMG3>3.0.CO;2-H","article-title":"The Camera-Marugo-Cohen syndrome: report of two new patients.","volume":"86","author":"Lambert","year":"1999","journal-title":"Am J Med Genet"},{"key":"R3-3-20240808","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/S0022-3476(79)80349-2","article-title":"Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies.","volume":"94","author":"Urban","year":"1979","journal-title":"J Pediatr"},{"key":"R4-3-20240808","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/S0022-3476(79)80350-9","article-title":"X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity-a new syndrome.","volume":"94","author":"Vasquez","year":"1979","journal-title":"J Pediatr"},{"key":"R5-3-20240808","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/ajmg.1320310410","article-title":"Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome): a probable second report.","volume":"31","author":"Pagnan","year":"1988","journal-title":"Am J Med Genet"}],"container-title":["Journal of Clinical Neuromuscular Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00131402-200803000-00003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T17:49:15Z","timestamp":1786038555000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00131402-200803000-00003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008]]}},"URL":"https:\/\/doi.org\/10.1097\/cnd.0b013e31815e5fee","relation":{},"ISSN":["1522-0443"],"issn-type":[{"value":"1522-0443","type":"print"}],"subject":[],"published":{"date-parts":[[2008,3]]}}}