Page 170 - GPD-4-1
P. 170

Gene & Protein in Disease                                                Clinical findings of RYR1 mutation



               the alpha-1-subunit of the human dihydropyridine-sensitive   activity profiles  of  type  1 ryanodinereceptor  channels
               L-type voltage-dependent calcium-channel receptor in   carrying malignant hyperthermia and central coredisease
               skeletal muscle. Am J Hum Genet. 1997;60:1316-1325.  mutations in the amino-terminal region.  PLoS One.
               doi: 10.1086/515454                                2015;10(6):e0130606.
            15.  Avila G, O’Connell KM, Dirksen RT. The pore region of the      doi: 10.1371/journal.pone.0130606
               skeletal muscle ryanodine receptor is a primary locus for   18.  Harikrishna GV, Padmanabha H, Polavarapu K,  et al.
               excitation-contraction uncoupling in central core disease.   Phenotype-genotype correlation of a cohort of patients with
               J Gen Physiol. 2003;121(4):277-286.                congenital myopathy: A single centre experience from India.
               doi: 10.1085/jgp.200308791                         J Neuromuscul Dis. 2024;11(5):935-957.
            16.  Murayama T, Kurebayashi N, Ogawa H,  et al. Genotype-     doi: 10.3233/JND-230021
               phenotype correlations of malignant hyperthermia and   19.  Elbaz  M,  Ruiz  A,  Bachmann  C,  et al.  Quantitative
               central core disease mutations in the central region of the   RYR1 reduction and loss of calcium sensitivity of
               RYR1 channel. Hum Mutat. 2016;37(11):1231-1241.    RYR1Q1970fsX16+A4329D cause cores and loss of muscle
               doi: 10.1002/humu.23072                            strength. Hum Mol Genet. 2019;28(18):2987-2999.
            17.  Murayama T, Kurebayashi N, Yamazawa T, et al. Divergent      doi: 10.1093/hmg/ddz092

























































            Volume 4 Issue 1 (2025)                         6                               doi: 10.36922/gpd.4748
   165   166   167   168   169   170   171   172