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Clinical manifestations of\n                  <jats:italic>RYR1<\/jats:italic>\n                  -RD include proximal\/axial muscle weakness, delayed motor milestones, impaired mobility, muscle pain, and fatigue. Muscle-specific microRNAs (miRNAs) are mostly expressed in muscle tissue and can be detected peripherally in plasma. Using a digital detection system, here we identified and quantified differential amounts of miRNAs in six adult (four monoallelic and two biallelic)\n                  <jats:italic>RYR1<\/jats:italic>\n                  -RD patient plasma samples compared to controls. Overall, 51 differentially expressed miRNAs were identified and hsa-miR-4454+hsa-miR-7975, in particular, was significantly overexpressed relative to controls (+ 39-fold, P=0.00285). Exploration of these differentially expressed miRNAs warrant further investigation as potential biomarkers of\n                  <jats:italic>RYR1<\/jats:italic>\n                  -RD.\n                <\/jats:p>","DOI":"10.64898\/2026.05.14.725164","type":"posted-content","created":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T04:05:12Z","timestamp":1778990712000},"source":"Crossref","is-referenced-by-count":0,"title":["Plasma Micro-RNA Signatures of Type 1 Ryanodine Receptor Related Myopathies"],"prefix":"10.64898","author":[{"given":"Pooja","family":"Varma","sequence":"first","affiliation":[{"name":"Division of Intramural Research, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayra","family":"Saintilus","sequence":"additional","affiliation":[{"name":"Skeletal Myopathies Unit, NIH Clinical Center, National Institutes of Health, Bethesda, MD, 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