Article

Plasma Micro-RNA Signatures of Type 1 Ryanodine Receptor Related Myopathies

2026-05-16

Abstract excerpt

Pathogenic RYR1 variants are associated with a set of rare neuromuscular disorders termed RYR1 -related disorders ( RYR1 -RD). Clinical manifestations of RYR1 -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 detect...

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Literature Corpus work: 68457ea5-ca12-5f6f-8c27-a3e3e381f724
DOI: 10.64898/2026.05.14.725164

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