Article
A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.
PLoS genetics - 24 Jun 2010
Ashrafian Houman, Docherty Louise, Leo Vincenzo, Towlson Christopher, Neilan Monica, Steeples Violetta, Lygate Craig A, Hough Tertius, Townsend Stuart, Williams Debbie, Wells Sara, Norris Dominic, Glyn-Jones Sarah, Land John, Barbaric Ivana, Lalanne Zuzanne, Denny Paul, Szumska Dorota, Bhattacharya Shoumo, Griffin Julian L, Hargreaves Iain, Fernandez-Fuentes Narcis, Cheeseman Michael, Watkins Hugh, Dear T Neil
Abstract excerpt
Mutations in a number of genes have been linked to inherited dilated cardiomyopathy (DCM). However, such mutations account for only a small proportion of the clinical cases emphasising the need for alternative discovery approaches to uncovering novel pathogenic mutations in hitherto unidentified pathways. Accordingly, as part of a large-scale N-ethyl-N-nitrosourea mutagenesis screen, we identified a mouse mutant,...
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