1. Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. (22nd January 2018) Authors: Alonso‐Jiménez, A.; Ramón, C.; Dols‐Icardo, O.; Roig, C.; Gallardo, E.; Clarimón, J.; Núñez‐Peralta, C.; Díaz‐Manera, J. Journal: European journal of neurology Issue: Volume 25:Number 2(2018) Page Start: e25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene. (June 2014) Authors: Díaz‐Manera, J.; Alejaldre, A.; Llauger, J.; Mirabet, S.; Rojas‐García, R.; Ramos‐Fransi, A.; Gallardo, E.; Illa, I. Journal: European journal of neurology Issue: Volume 21:Number 6(2014:Jun.) Page Start: e51 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗