A point mutation (GGC to GGT) in the LMNA gene, which codes for lamin A, causes Benjamin Button disease.
This mutation activates a splice site inside exon 11 of the pre-mRNA, causing the final 150 base pairs (50 amino acids) of that exon to be deleted at the C-terminus.
This results in a truncated lamin A precursor (Progerin).
Myocardial infarction, which is characterized by artery hardening, is the most common cause of mortality (arteriosclerosis).
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