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

Acta Neuropathol Commun. 2018 Aug 29;6(1):83. doi: 10.1186/s40478-018-0589-y.

Haicui Wang^{1

2}, Anne Schänzer³, Birgit Kampschulte⁴, Hülya-Sevcan Daimagüler^{1

2}, Thushiha Logeswaran⁵, Hannah Schlierbach³, Jutta Petzinger⁴, Harald Ehrhardt⁴, Andreas Hahn⁶, Sebahattin Cirak^{7

8}

¹ Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany.
² Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany.
³ Institute of Neuropathology, Justus Liebig University Giessen, Arndtsr.16, 35392, Giessen, Germany.
⁴ Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University, Giessen, Germany.
⁵ Department of Pediatric Cardiology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
⁶ Department of Child Neurology, Center of Child and Adolescent Medicine, Justus Liebig University Giessen, 35392, Giessen, Germany.
⁷ Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany. [email protected].
⁸ Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany. [email protected].

No abstract available

Publication types