An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101775
Abstract: Peripheral blood mononuclear cells for reprogramming in this work were donated by a girl with clinically and genetically diagnosed multiminicore disease harboring compound heterozygote mutations of RYR1 gene. Induced pluripotent stem cells (iPSCs) were obtained… read more here.
Keywords: ryr1 gene; multiminicore disease; heterozygote mutations; mutations ryr1 ... See more keywords
Wild pigs (Sus scrofa) population as reservoirs for deleterious mutations in the RYR1 gene associated with Porcine Stress Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Veterinary and Animal Science"
DOI: 10.1016/j.vas.2020.100160
Abstract: Highlights • First record of presence the RYR1 deleterious allele in wild pigs from Argentina.• The second work that reports it in wild pigs worldwide.• We found 6.6% of wild pigs carried the RYR1 gene… read more here.
Keywords: ryr1 gene; sus scrofa; wild pigs; scrofa population ... See more keywords
Adult Diagnosis of Type 1 Fiber Predominance Myopathy Caused by Novel Mutations in the RYR1 Gene.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000237
Abstract: We describe a 57-year-old patient with mild diffuse weakness that was incidentally detected when he was evaluated for restless leg syndrome. An electromyography confirmed the presence of a myopathy without suggestion of inflammatory myopathy. A… read more here.
Keywords: fiber predominance; ryr1 gene; type fiber; myopathy ... See more keywords
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps
Sign Up to like & getrecommendations! Published in 2025 at "European Journal of Neurology"
DOI: 10.1111/ene.16471
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… read more here.
Keywords: gene associated; ryr1 gene; founder variant; variant ryr1 ... See more keywords