Article
The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.
American journal of respiratory and critical care medicine - 1 Jan 2001
Strizheva G D, Carsillo T, Kruger W D, Sullivan E J, Ryu J H, Henske E P
Abstract excerpt
Lymphangiomyomatosis (LAM) is a progressive and often fatal interstitial lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. LAM is of unusual interest biologically because it affects almost exclusively young women. LAM can occur as an isolated disorder (sporadic LAM) or in association with tuberous sclerosis complex (TSC). Because only a minority of women with TSC...
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