Pathology
germline mutations in
- early-onset familial Alzheimer disease (Locus 4 at 1q31-q42) (MIM.606889)
- idiopathic dilated cardiomyopathy (CMD1V) (MIM.115200)
See also
presenilins (PSENs)
References
Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006 Dec;79(6):1030-9. PMID: 17186461