Stormorken syndrome
Evidence-based neurology checklist on stormorken syndrome: Genetics This is a tubular aggregate myopathy It is caused by mutations in the STIM1 gene The gene encodes stromal interaction molecule 1 protein The transmission is autosomal dominant The mutation impairs calcium homeostasis ORAI1 gene…
Genetics
- This is a tubular aggregate myopathy
- It is caused by mutations in the STIM1 gene
- The gene encodes stromal interaction molecule 1 protein
- The transmission is autosomal dominant
- The mutation impairs calcium homeostasis
- ORAI1 gene mutations may produce a similar syndrome
Neurological features
Systemic features
Muscle biopsy
Magnetic resonance imaging (MRI): affected muscles
Magnetic resonance imaging (MRI): spared muscles
References
- Morin G, Bruechle NO, Singh AR, et al. Gain-of-function mutation in STIM1 (P.R304W) is associated with Stormorken syndrome. Hum Mutat 2014; 35:1221-1232.
- Misceo D, Holmgren A, Louch WE, et al. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat 2014; 35:556-564.
- Lacruz RS, Feske S. Diseases caused by mutations in ORAI1 and STIM1. Ann N Y Acad Sci 2015; 1356:45-79.
- Okuma H, Saito F, Mitsui J, et al. Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. Neurol Genet 2016; 2:e50.
- Alonso-Jiménez A, Ramón C, Dols-Icardo O, et al. Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. Eur J Neurol 2018; 25:e25-e26.
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