ArticleCase reports in neurological medicine2025
RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation.
Article in Case reports in neurological medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Motor neuron diseases (MND) are a group of rare, often severe, and life-limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression. The Department of Neurology at Martin Luther University Halle (Germany) followed a male patient with slowly progressive muscle loss, muscle weakness, and muscle pain in the proximal upper arm and shoulder muscles over a period of 10 years and collected clinical, electrophysiological, neuroradiological, laboratory, and genetic data. Clinical neurological and electrophysiological diagnostics clearly indicated MND. A detailed genetic analysis resulted in the first description of an in-frame mutation (heterozygous, c.5691_5693delGGA) in the
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