Journalartikel

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


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

Jahr der Veröffentlichung2018

ZeitschriftActa Neuropathologica Communications

Bandnummer6

ISSN2051-5960

Open Access StatusGold

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

VerlagBioMed Central



Zitierstile

Harvard-ZitierstilWang, 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-ZitierstilWang, 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



Schlagwörter


CONGENITAL MYOPATHIESHUMAN SURAL NERVELEFT-VENTRICULAR NONCOMPACTION


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