- Record: found
- Abstract: found
- Article: not found
Phenotype and course of Hutchinson-Gilford progeria syndrome.
Melissa A Merideth
1 ,
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
Feb 07 2008
Read this article at
There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
Abstract
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.