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Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Kekou, Kyriaki; Svingou, Maria; Vogiatzakis, Nikos; Nitsa, Evangelia; Veltra, Danai; Marinakis, Nikolaos M; Tilemis, Faidon-Nikolaos; Tzetis, Maria; Mitrakos, Anastasios; Tsaroucha, Charalambia; Selenti, Nicoletta; Papadimas, Giorgos-Konstantinos; Papadopoulos, Constantinos; Traeger-Synodinos, Joanne; Lochmuller, Hanns; Sofocleous, Christalena.
Afiliação
  • Kekou K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Svingou M; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Vogiatzakis N; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Nitsa E; Postgraduate Program in Biostatistics School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Marinakis NM; St. Sophia's Children's Hospital, Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, Athens, Greece.
  • Tilemis FN; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Tzetis M; St. Sophia's Children's Hospital, Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, Athens, Greece.
  • Mitrakos A; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Tsaroucha C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Selenti N; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Papadimas GK; St. Sophia's Children's Hospital, Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, Athens, Greece.
  • Papadopoulos C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Traeger-Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Lochmuller H; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Sofocleous C; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Expert Rev Mol Diagn ; 23(11): 999-1010, 2023.
Article em En | MEDLINE | ID: mdl-37754746
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofina / Distrofia Muscular de Duchenne Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Aspecto: Ethics Limite: Humans / Male País/Região como assunto: Europa Idioma: En Revista: Expert Rev Mol Diagn Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofina / Distrofia Muscular de Duchenne Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Aspecto: Ethics Limite: Humans / Male País/Região como assunto: Europa Idioma: En Revista: Expert Rev Mol Diagn Ano de publicação: 2023 Tipo de documento: Article