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Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.
Knierim, Ellen; Seelow, Dominik; Gill, Esther; von Moers, Arpad; Schuelke, Markus.
Afiliação
  • Knierim E; NeuroCure Clinical Research Center (NCRC), Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Germany.
  • Seelow D; NeuroCure Clinical Research Center (NCRC), Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Germany.
  • Gill E; NeuroCure Clinical Research Center (NCRC), Charité-Universitätsmedizin Berlin, Germany.
  • von Moers A; Children's Hospital, DRK-Kliniken Westend, Berlin, Germany.
  • Schuelke M; NeuroCure Clinical Research Center (NCRC), Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Germany. Electronic address: markus.schuelke@charite.de.
Mitochondrion ; 20: 1-6, 2015 Jan.
Article em En | MEDLINE | ID: mdl-25446393
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estado Epiléptico / Timidina Quinase / Encefalomiopatias Mitocondriais / Mutação de Sentido Incorreto / Heterozigoto Limite: Child / Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estado Epiléptico / Timidina Quinase / Encefalomiopatias Mitocondriais / Mutação de Sentido Incorreto / Heterozigoto Limite: Child / Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article