Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity

Author:

Kekou Kyriaki1,Svingou Maria1,Vogiatzakis Nikos1,Nitsa Evangelia2,Veltra Danai13,Marinakis Nikolaos M.13ORCID,Tilemis Faidon-Nikolaos1,Tzetis Maria1,Mitrakos Anastasios13,Tsaroucha Charalambia1,Selenti Nicoletta1,Papadimas Giorgos-Konstantinos4,Papadopoulos Constantinos4,Traeger-Synodinos Joanne1,Lochmuller Hanns567,Sofocleous Christalena1

Affiliation:

1. Laboratory of Medical Genetics, St. Sophia’s Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

2. Postgraduate Program in Biostatistics School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

3. 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

4. Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

5. Department of Neuropediatrics and Muscle Disorders, Medical Center – University of Freiburg, Freiburg, Germany

6. Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain

7. Children’s Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine

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