Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3015736 | Revista Española de Cardiología | 2007 | 4 Pages |
Abstract
We report a family with several members affected by hypertrophic cardiomyopathy in which there was a high incidence of sudden death. Disease was presumably caused by the substitution of cytosine by guanine at nucleotide 269 of MYBPC3 mRNA. This mutation, which has not previously been described, modifies codon 79, which encodes for the incorporation of a tyrosine, and gives rise to a stop codon. The mutation described here appears to confer a higher risk than that previously associated with hypertrophic cardiomyopathy due to MYBPC3 gene mutation.
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Authors
Pablo GarcÃa-PavÃa, Javier Segovia, Jesús Molano, Roberto Mora, Frederic Kontny, Knut Erik Berge, Trond P. Lerend, Luis Alonso-Pulpóna,