A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

ABSTRACT:

Background and purpose

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.

Methods

Families harbouring the p.Leu2286 RYR1 variant underwent a detailed clinical evaluation, including muscle magnetic resonance imaging, electromyography and muscle biopsy. Haplotypes were analysed in available patients and their relatives.

Results

Individuals carrying the p.Leu2286Val shared a common haplotype, suggesting a founder event in the Basque Country population. The most prevalent features wer

SUBMITTER: Segarra-Casas A 

PROVIDER: S-EPMC11688629 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature