Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the underlying gene defects have been characterized in only a minority of cases, because tissue specificity of the m...

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Main Authors: Götz, Alexandra, Tyynismaa, Henna, Euro, Liliya, Ellonen, Pekka, Hyötyläinen, Tuulia, Ojala, Tiina, Hämäläinen, Riikka H., Tommiska, Johanna, Raivio, Taneli, Oresic, Matej, Karikoski, Riitta, Tammela, Outi, Simola, Kalle O.J., Paetau, Anders, Tyni, Tiina, Suomalainen, Anu
Format: Artigo
Language:Inglês
Published: Elsevier 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3146718/
https://ncbi.nlm.nih.gov/pubmed/21549344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.04.006
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