Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

Christopher J Carroll; Pirjo Isohanni; Rosanna Pöyhönen; Liliya Euro; Uwe Richter; Virginia Brilhante; Alexandra Götz; Taina Lahtinen; Anders Paetau; Helena Pihko; Brendan J Battersby; Henna Tyynismaa; Anu Suomalainen

doi:10.1136/jmedgenet-2012-101375

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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

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Christopher J Carroll Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Pirjo Isohanni Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, FinlandDepartment of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland PubMed articles Google scholar articles
Rosanna Pöyhönen Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Liliya Euro Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Uwe Richter Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Virginia Brilhante Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Alexandra Götz Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Taina Lahtinen Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Anders Paetau Department of Pathology, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Helena Pihko Department of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland PubMed articles Google scholar articles
Brendan J Battersby Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, FinlandInstitute of Biomedicine, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Henna Tyynismaa Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, FinlandDepartment of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland PubMed articles Google scholar articles
Anu Suomalainen Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, FinlandDepartment of Neurology, Helsinki University Central Hospital, Helsinki, Finland PubMed articles Google scholar articles

Correspondence to Professor Anu Suomalainen-Wartiovaara, Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, r.C523B, Haartmaninkatu 8, Helsinki 00290, Finland; anu.wartiovaara{at}helsinki.fi

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Carroll CJ, Isohanni P, Pöyhönen R, et al

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

Journal of Medical Genetics 2013;50:151-159.

Publication history

Received November 5, 2012
Accepted December 4, 2012
First published January 12, 2013.

Online issue publication

February 13, 2013

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