Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.

@article{MazereeuwHautier2007HutchinsonGilfordPS,
  title={Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.},
  author={J Mazereeuw-Hautier and Louie C. Wilson and Salahuddin Mohammed and David O. Smallwood and Sue Shackleton and David J. Atherton and John I. Harper},
  journal={The British journal of dermatology},
  year={2007},
  volume={156 6},
  pages={1308-14}
}
BACKGROUND Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Classical and atypical forms of HGPS have been reported and there are clinical overlaps with mandibulo-acral dysplasia and restrictive dermopathy. To date, mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. Correlations… CONTINUE READING