{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T09:03:33Z","timestamp":1781082213435,"version":"3.54.1"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,12,26]],"date-time":"2007-12-26T00:00:00Z","timestamp":1198627200000},"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":[[2008,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Many patients with the limb\u2010girdle variant of congenital myasthenic syndrome (CMS) possess mutations in the human <jats:italic>Dok\u20107<\/jats:italic> gene (<jats:italic>DOK7<\/jats:italic>). We identified six unrelated CMS patients with <jats:italic>DOK7<\/jats:italic> mutations. Two patients, one mildly and the other moderately affected, were homozygous for the previously described <jats:italic>1263ins<\/jats:italic>C mutation. The common <jats:italic>1124_1127dupTGCC<\/jats:italic> mutation was detected in the other four patients, whose clinical phenotypes range from mildly to severely affected. This striking phenotypic heterogeneity found both within and between mutational classes is made more compelling by data from our electrophysiological studies and electron microscopy of the neuromuscular junction (NMJ). Indeed, several aspects of the physiological and morphometric data do not correlate with genotype or severity of clinical phenotype. Overall, our study corroborates the findings of others and provides an additional demonstration of the considerable phenotypic variability associated with CMS due to <jats:italic>DOK7<\/jats:italic> mutations. Muscle Nerve, 2008<\/jats:p>","DOI":"10.1002\/mus.20944","type":"journal-article","created":{"date-parts":[[2007,12,26]],"date-time":"2007-12-26T17:46:39Z","timestamp":1198691199000},"page":"448-456","source":"Crossref","is-referenced-by-count":47,"title":["Variable phenotypes associated with mutations in <i>DOK7<\/i>"],"prefix":"10.1002","volume":"37","author":[{"given":"Jennifer A.","family":"Anderson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jarae J.","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constance","family":"Bowe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig","family":"Mcdonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David P.","family":"Richman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert L.","family":"Wollmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo A.","family":"Maselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,3,19]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.05.001"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1130837"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200307164"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh333"},{"key":"e_1_2_7_6_2","first-page":"16","article-title":"Congenital myasthenic syndrome with episodic apnoea: new mutations and an unusual complication","volume":"251","author":"Davies N","year":"2004","journal-title":"J Neurol"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410010403"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400521"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10269"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2004.12.007"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(78)90186-5"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10433"},{"key":"e_1_2_7_13_2","first-page":"A182","article-title":"Combined presynaptic and postsynaptic failure in a congenital myasthenic syndrome (CMS) associated with cerebellar ataxia, seizures, mental retardation, and a mutation in the acetylcholine receptor (AChR) epsilon subunit","volume":"54","author":"Maselli RA","year":"2000","journal-title":"Neurology"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880161109"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3940(92)90131-P"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm068"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.16.9654"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/339465"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.3.758"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.753"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1127142"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm072"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.1992.262.1.C229"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880160906"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl200"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5193(89)80110-9"}],"container-title":["Muscle &amp; 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