{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T06:35:29Z","timestamp":1773297329387,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3501,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,11,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked myotubular myopathy (XLMTM) is a recessively inherited disorder, lethal to males in the first months of life. Since the first report in 1969, at least 90 cases have been described in the literature. Diagnosis is confirmed by muscle biopsy. Linkage studies have localized the disorder to the Xq28 region, close to the loci for X\u2010linked hydrocephalus and MASA syndrome. We report on 10 additional cases of XLMTM from six different families. In addition to classic clinical features of XLMTM, our patients showed interesting associated findings which included birth length &gt;90th centile and large head circumference with or without hydrocephalus in 70%, narrow, elongated face in 80%, and slender, long digits in 60% of cases. There was concordance in the occurrence and severity of hydrocephalus in most sib pairs. These features in a \u201cfloppy\u201d male infant serve as clues for early clinical diagnosis of XLMTM, which can then be confirmed by muscle biopsy. Development of polyhydramnios was observed in the third trimester of an at\u2010risk dizygotic twin gestation monitored by serial sonography with confirmation of XLMTM at birth. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590211","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:12:23Z","timestamp":1118513543000},"page":"168-173","source":"Crossref","is-referenced-by-count":25,"title":["X\u2010linked myotubular myopathy: Clinical observations in ten additional cases"],"prefix":"10.1002","volume":"59","author":[{"given":"Maries","family":"Joseph","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Shashidhar","family":"Pai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenton R.","family":"Holden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gail","family":"Herman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390105"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072056"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313942"},{"key":"e_1_2_1_5_1","first-page":"1280","article-title":"Interstitial deletion at Xq27\u2010q28 in a girl with X\u2010linked centronuclear myopathy","volume":"53","author":"Dahl N","year":"1993","journal-title":"Am J Hum Genet [Suppl]"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03515.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(91)90275-C"},{"key":"e_1_2_1_8_1","first-page":"120","volume-title":"Color Atlas of Muscle Disorders in Childhood","author":"Dubowitz V","year":"1989"},{"key":"e_1_2_1_9_1","first-page":"134","article-title":"Myotubular myopathy linked to chromosome X. Pathological and clinical case study","volume":"53","author":"Garcia\u2010Bragado F","year":"1990","journal-title":"Arch Neurobiol (Madr)"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/108.4.941"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03332.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1988.tb10714.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.288"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90096-B"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199302000-00022"},{"key":"e_1_2_1_16_1","first-page":"1066","article-title":"Genetic linkage heterogeneity in myotubular myopathy","volume":"53","author":"Samson F","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1966.00470070005001"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.281"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.284"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513819209024203"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.9.901"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320590211","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320590211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T02:31:18Z","timestamp":1698373878000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320590211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11,6]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,11,6]]}},"alternative-id":["10.1002\/ajmg.1320590211"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320590211","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11,6]]}}}