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Updated: Jan 12, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation

Andreas Posa1, Malte Kornhuber2,3

  • 1University Clinic and Outpatient Clinic for Radiology and Neuroradiology, Martin Luther University Halle-Wittenberg, Ernst-Grube-Straße 40, 06120 Halle (Saale), Germany.

Case Reports in Neurological Medicine
|November 3, 2025
PubMed
Summary

This study identifies a novel RYR1 gene mutation in a patient with motor neuron disease (MND), expanding the known genetic causes of this progressive neurological disorder.

Keywords:
RYR1gene (ryanodine receptor 1)electromyographyelectrophysiologymotor neuron diseases (MND)myopathy

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