Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

@article{Carsillo2000MutationsIT,
  title={Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.},
  author={T Carsillo and Aristotelis Astrinidis and Elizabeth P Henske},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2000},
  volume={97 11},
  pages={6085-90}
}
Lymphangioleiomyomatosis (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. Renal angiomyolipomas, which are found in most tuberous sclerosis patients, also occur in 60% of sporadic LAM patients. We… CONTINUE READING
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