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

Wang, H., Schänzer, A., Kampschulte, B., Daimagüler, H. S., Logeswaran, T., Schlierbach, H., … Cirak, S. (2018). A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. Acta Neuropathologica Communications, 6(1), 83. https://doi.org/10.1186/s40478-018-0589-y