Article
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
European journal of human genetics : EJHG - 1 Sept 2012
Reunert Janine, Wentzell Rüdiger, Walter Michael, Jakubiczka Sibylle, Zenker Martin, Brune Thomas, Rust Stephan, Marquardt Thorsten
Abstract excerpt
Hutchinson-Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke. Classical progeria is caused by the heterozygous point mutation c.1824C>T in the LMNA gene, which activates a cryptic...
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