A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.
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, Python, which develops DCM. We demonstrate that the Python phenotype is attribut...Expand abstract
- Publication status:
- Peer review status:
- Peer reviewed
(Version of record, pdf, 6.7MB)
- Publisher copy:
- Local pid:
- Deposit date:
- Copyright holder:
- Ashrafian et al
- Copyright date:
- Copyright 2010 Ashrafian et al. This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.
- CC Attribution (CC BY)
If you are the owner of this record, you can report an update to it here: Report update to this record