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

Saved in:
Bibliographic Details
Title: Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Authors: 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.; 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., Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; 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; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, 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.; 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., 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; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Papadopoulos C; Department of Neurology, Eginition 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 Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; 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., Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Source: Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 Jul-Dec; Vol. 23 (11), pp. 999-1010. Date of Electronic Publication: 2023 Oct 24.
Publication Type: Journal Article
Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101120777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8352 (Electronic) Linking ISSN: 14737159 NLM ISO Abbreviation: Expert Rev Mol Diagn Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1744-8352
DOI:10.1080/14737159.2023.2264181