A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array
Konstantina Kosma
1
Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Anastasios Mitrakos
1
Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Christalena Sofokleous
1
Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
2
Medical School, National and Kapodistrian University of Athens, Research Institute for the Study of Genetic and Malignant Diseases in Childhood, “Aghia Sophia” Children's Hospital, Athens, Greece
,
George Papadimas
3
1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Helena Fryssira
1
Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Sofia Kitsiou-Tzeli
1
Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Maria Tzetis
1
Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
