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

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

Author information

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.

KEYWORDS:

Stormorken; corpus callosum agenesis; hyperCKemia; miosis; myopathy

PMID:
29356264
DOI:
10.1111/ene.13545

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