Gene panel sequencing identifies a novel ryr1 p.ser2300pro variant as candidate for malignant hyperthermia with multi-minicore myopathy

HIGHLIGHTS

• who: Young Jae Moon and colleagues from the Department of Orthopedic Surgery, Jeonbuk National University Medical School and Hospital have published the research: Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy, in the Journal: Genes 2022, 1726 of 16/01/2022
• what: The authors report Korean having MH with functionally supported by RYR1-mediated intracellular Ca2+ release testing in B lymphocytes.
• future: Although the criteria for MH diagnosis have not been established and further comparative studies are required RYR1-mediated intracellular Ca2 . . .
  

   

  

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