Journal article

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


Authors list: Wang, Haicui; Schaenzer, Anne; Kampschulte, Birgit; Daimagueler, Huelya-Sevcan; Logeswaran, Thushiha; Schlierbach, Hannah; Petzinger, Jutta; Ehrhardt, Harald; Hahn, Andreas; Cirak, Sebahattin

Publication year: 2018

Journal: Acta Neuropathologica Communications

Volume number: 6

ISSN: 2051-5960

Open access status: Gold

DOI Link: https://doi.org/10.1186/s40478-018-0589-y

Publisher: BioMed Central



Citation Styles

Harvard Citation style: Wang, H., Schaenzer, A., Kampschulte, B., Daimagueler, H., Logeswaran, T., Schlierbach, H., et al. (2018) A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy, Acta Neuropathologica Communications, 6, Article 83. https://doi.org/10.1186/s40478-018-0589-y

APA Citation style: Wang, H., Schaenzer, A., Kampschulte, B., Daimagueler, H., Logeswaran, T., Schlierbach, H., Petzinger, J., Ehrhardt, H., Hahn, A., & Cirak, S. (2018). A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. Acta Neuropathologica Communications. 6, Article 83. https://doi.org/10.1186/s40478-018-0589-y



Keywords

CONGENITAL MYOPATHIES; HUMAN SURAL NERVE; LEFT-VENTRICULAR NONCOMPACTION

Last updated on 2025-10-06 at 10:54