Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in… Click to show full abstract
Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.
Keywords:
gene associated;
ryr1 gene;
founder variant;
variant ryr1
Journal Title: European Journal of Neurology
Year Published: 2025
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Journal Title: European Journal of Neurology
Year Published: 2025
Link to full text (if available)
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recommendations!