Physical Findings in Children with Hutchinson–Gilford Progeria Syndrome.
).1-3 Within approximately 13 years after birth, affected children die from cardiovascular disease. The cause is abnormal lamin A (denoted “progerin,” to distinguish it from normal lamin A), which is produced by an activated cryptic splice donor site created by a change from glycine GGC to glycine GGT in codon 608 of exon 11 of the lamin A (LMNA) gene.4,5 Progerin disrupts the structural integrity of the inner nuclear membrane in a dominant negative fashion.6-10 We prospectively characterized the clinical characteristics