{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T10:21:03Z","timestamp":1789986063009,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T00:00:00Z","timestamp":1213315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural history of this rare congenital disorder in fourteen individuals with NAM. Findings include a previously unreported 36% mortality by age 18. Based on this study, our conservative estimate for prevalence of NAM within the Lumbee population is \u223c2:10,000; however, birth incidence remains unknown. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32370","type":"journal-article","created":{"date-parts":[[2008,6,14]],"date-time":"2008-06-14T02:25:14Z","timestamp":1213410314000},"page":"1832-1841","source":"Crossref","is-referenced-by-count":79,"title":["Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia"],"prefix":"10.1002","volume":"146A","author":[{"given":"Demetra S.","family":"Stamm","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur S.","family":"Aylsworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M.","family":"Stajich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen G.","family":"Kahler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leigh B.","family":"Thorne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcy C.","family":"Speer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia M.","family":"Powell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,6,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006250-200305001-00037"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1213\/00000539-198710000-00028"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.12.008"},{"key":"e_1_2_7_5_1","first-page":"152","volume-title":"Almost white","author":"Berry B","year":"1963"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1213\/00000539-197209000-00045"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1037\/1099-9809.11.1.82"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/62.10.977"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20644"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20761"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.2.104"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03018646"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1294-380"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO;2-D"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20260"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2884728"},{"key":"e_1_2_7_17_1","first-page":"485","article-title":"Malignant hyperthermia following isoflurane anesthesia in an American Lumbee Indian","volume":"50","author":"Meluch AM","year":"1989","journal-title":"N C Med J"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/clim.2000.4956"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090208"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(88)90086-0"},{"key":"e_1_2_7_21_1","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1213\/00000539-199308000-00014","article-title":"Malignant hyperthermia: A review of published cases","volume":"77","author":"Strazis KP","year":"1993","journal-title":"Anesth Analg"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl077"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32370","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:53:40Z","timestamp":1699966420000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,13]]},"references-count":21,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2008,7,15]]}},"alternative-id":["10.1002\/ajmg.a.32370"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32370","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,13]]}}}