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Prevalence of clinical parameters (%)
Add new symptom/sign to this disease
List of symptoms
List of references:
Phenotype and course of Hutchinson-Gilford progeria syndrome.
Melissa A Merideth, Leslie B Gordon, Sarah Clauss, Vandana Sachdev, Ann C M Smith, Monique B Perry, Carmen C Brewer, Christopher Zalewski, H Jeffrey Kim, Beth Solomon, Brian P Brooks, Lynn H Gerber, Maria L Turner, Demetrio L Domingo, Thomas C Hart, Jennifer Graf, James C Reynolds, Andrea Gropman, Jack A Yanovski, Marie Gerhard-Herman, Francis S Collins, Elizabeth G Nabel, Richard O Cannon, William A Gahl, Wendy J Introne,
Hutchinson-Gilford progeria syndrome is a rare, sporadic, autosomal dominant syndrome that involves premature aging, generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. The genetic basis of most cases of this syndrome is a change from glycine GGC to glycine GGT in codon 608 of the lamin A (LMNA) gene, which activates a cryptic splice donor site to produce abnormal lamin A; this disrupts the nuclear membrane and alters transcription.
The New England journal of medicine - Feb 2008
Smooth muscle cell depletion and collagen types in progeric arteries.
W E Stehbens, B Delahunt, T Shozawa, E Gilbert-Barness,
Review of two autopsy cases of progeria confirms severe smooth muscle cell (SMC) depletion in the atherosclerotic aortic media and the presence of collagen types I, III, IV, V, and VI in the aorta and renal vessels as is consistent with atherosclerotic disease.
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology -
Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome.
V M Silvera, L B Gordon, D B Orbach, S E Campbell, J T Machan, N J Ullrich,
HGPS is a rare disorder of segmental aging, with early morbidity from cardiovascular and cerebrovascular disease. The goal of this study was to identify the neurovascular features, infarct type, topography, and natural history of stroke in the only neurovascular imaging cohort study of HGPS.
AJNR. American journal of neuroradiology - May 2013
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