{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T22:35:40Z","timestamp":1789598140164,"version":"build-2803163510"},"reference-count":25,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,7]]},"abstract":"\n Background:<\/jats:title>\n Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC).<\/jats:p>\n <\/jats:sec>\n \n Objective:<\/jats:title>\n The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1<\/jats:italic> disease-causing mutation, TSC2<\/jats:italic> disease-causing mutation, or no mutation identified (NMI).<\/jats:p>\n <\/jats:sec>\n \n Methods and results:<\/jats:title>\n We conducted a retrospective review of the chest computed tomography (CT) of 45 female and 20 male patients with TSC and found cysts consistent with LAM in 22 (49%) women and two (10%) men. In the female population, changes consistent with LAM were observed in six of 15 (40%) patients with TSC1<\/jats:italic>, 11 of 23 (48%) with TSC2<\/jats:italic>, and five of seven (71%) with NMI. While the predominant size of cysts did not differ across these three groups, TSC2<\/jats:italic> women with LAM had a significantly greater number of cysts than did TSC1<\/jats:italic> patients (p\u200a=\u200a0.010).<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n These findings suggest a higher rate of LAM in TSC1<\/jats:italic> than previously recognised, as well as a fundamental difference in CT presentation between TSC1<\/jats:italic> and TSC2<\/jats:italic>.<\/jats:p>\n <\/jats:sec>","DOI":"10.1136\/jmg.2008.065342","type":"journal-article","created":{"date-parts":[[2009,5,6]],"date-time":"2009-05-06T20:13:54Z","timestamp":1241640834000},"page":"465-468","source":"Crossref","is-referenced-by-count":69,"title":["TSC1<\/i> and TSC2<\/i> mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex"],"prefix":"10.1136","volume":"46","author":[{"given":"D A","family":"Muzykewicz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Muse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A L","family":"Numis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Rajagopal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E 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