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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Mendelian DisorderGenetic DisorderPrincipal Mutation HotspotGeneticsPathogenesisMedicineNatural SciencesMolecular BiologyPathologyDegenerative DiseaseMolecular GeneticsCentral Core DiseaseDisease Gene IdentificationCommon DiseasesGene ExpressionNeuromuscular PathologyRyr1 Gene