A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

• Haicui Wang,
• Anne Schänzer,
• Birgit Kampschulte,
• Hülya-Sevcan Daimagüler,
• Thushiha Logeswaran,
• Hannah Schlierbach,
• Jutta Petzinger,
• Harald Ehrhardt,
• Andreas Hahn,
• Sebahattin Cirak

Affiliations

Haicui Wang

Department of Pediatrics, University Hospital Cologne

Anne Schänzer

Institute of Neuropathology, Justus Liebig University Giessen

Birgit Kampschulte

Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University

Hülya-Sevcan Daimagüler

Department of Pediatrics, University Hospital Cologne

Thushiha Logeswaran

Department of Pediatric Cardiology, Center of Child and Adolescent Medicine, Justus Liebig University

Hannah Schlierbach

Institute of Neuropathology, Justus Liebig University Giessen

Jutta Petzinger

Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University

Harald Ehrhardt

Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University

Andreas Hahn

Department of Child Neurology, Center of Child and Adolescent Medicine, Justus Liebig University Giessen

Sebahattin Cirak

Department of Pediatrics, University Hospital Cologne