Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome

Eur J Neurol. 2018 Feb;25(2):e25-e26. doi: 10.1111/ene.13545.

A Alonso-Jiménez¹, C Ramón², O Dols-Icardo^{3

4}, C Roig¹, E Gallardo^{1

5}, J Clarimón^{3

4}, C Núñez-Peralta⁶, J Díaz-Manera^{1

5}

¹ Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
² Neurology Department, Hospital Universitario Central de Asturias, Oviedo, Spain.
³ Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
⁴ Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
⁵ Centro de Investigación Básica en Red en Enfermedades Raras (CIBERER), Madrid, Spain.
⁶ Radiology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

No abstract available

Keywords: Stormorken; corpus callosum agenesis; hyperCKemia; miosis; myopathy.

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