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- Title
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
- Authors
Carroll, Christopher J; Isohanni, Pirjo; Pöyhönen, Rosanna; Euro, Liliya; Richter, Uwe; Brilhante, Virginia; Götz, Alexandra; Lahtinen, Taina; Paetau, Anders; Pihko, Helena; Battersby, Brendan J; Tyynismaa, Henna; Suomalainen, Anu
- Abstract
The genetic complexity of infantile cardiomyopathies is remarkable, and the importance of mitochondrial translation defects as a causative factor is only starting to be recognised. We investigated the genetic basis for infantile onset recessive hypertrophic cardiomyopathy in two siblings.
- Publication
Journal of medical genetics, 2013, Vol 50, Issue 3, p151
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmedgenet-2012-101375