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 pat...
Saved in:
| Main Authors: | Houman Ashrafian, Louise Docherty, Vincenzo Leo, Christopher Towlson, Monica Neilan, Violetta Steeples, Craig A Lygate, Tertius Hough, Stuart Townsend, Debbie Williams, Sara Wells, Dominic Norris, Sarah Glyn-Jones, John Land, Ivana Barbaric, Zuzanne Lalanne, Paul Denny, Dorota Szumska, Shoumo Bhattacharya, Julian L Griffin, Iain Hargreaves, Narcis Fernandez-Fuentes, Michael Cheeseman, Hugh Watkins, T Neil Dear |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2010-06-01
|
| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1001000&type=printable |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Deubiquitination of DNM1L by USP3 triggers the development and metastasis of gallbladder carcinoma
by: Ruopeng Liang, et al.
Published: (2025-04-01) -
A novel DNM2 variant associated with centronuclear myopathy: a case report
by: Martina Rimoldi, et al.
Published: (2025-04-01) -
ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.
by: Gaynor Miller, et al.
Published: (2010-02-01) -
Site specific mutation of the Zic2 locus by microinjection of TALEN mRNA in mouse CD1, C3H and C57BL/6J oocytes.
by: Benjamin Davies, et al.
Published: (2013-01-01) -
Communication Fusion And Fission
by: Stefan VLADUTESCU
Published: (2022-07-01)