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MeSH Review

Myopathy, Central Core

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  1. Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. Priori, S.G., Napolitano, C. J. Clin. Invest. (2005) [Pubmed]
  2. Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Manning, B.M., Quane, K.A., Ording, H., Urwyler, A., Tegazzin, V., Lehane, M., O'Halloran, J., Hartung, E., Giblin, L.M., Lynch, P.J., Vaughan, P., Censier, K., Bendixen, D., Comi, G., Heytens, L., Monsieurs, K., Fagerlund, T., Wolz, W., Heffron, J.J., Muller, C.R., McCarthy, T.V. Am. J. Hum. Genet. (1998) [Pubmed]
  3. Microtubule-associated protein tau epitopes are present in fiber lesions in diverse muscle disorders. Lübke, U., Six, J., Villanova, M., Boons, J., Vandermeeren, M., Ceuterick, C., Cras, P., Martin, J.J. Am. J. Pathol. (1994) [Pubmed]
  4. Changes in motor innervation and histochemical pattern of muscle fibers in some congenital myopathies. Coërs, C., Telerman-Toppet, N., Gérard, J.M., Szliwowski, H., Bethlem, J., van Wijngaarden, G.K. Neurology (1976) [Pubmed]
  5. Abnormal intracellular ca(2+)homeostasis and disease. Missiaen, L., Robberecht, W., van den Bosch, L., Callewaert, G., Parys, J.B., Wuytack, F., Raeymaekers, L., Nilius, B., Eggermont, J., De Smedt, H. Cell Calcium (2000) [Pubmed]
  6. A mutation in the human ryanodine receptor gene associated with central core disease. Zhang, Y., Chen, H.S., Khanna, V.K., De Leon, S., Phillips, M.S., Schappert, K., Britt, B.A., Browell, A.K., MacLennan, D.H. Nat. Genet. (1993) [Pubmed]
  7. Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. Avila, G., O'Brien, J.J., Dirksen, R.T. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  8. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Fananapazir, L., Dalakas, M.C., Cyran, F., Cohn, G., Epstein, N.D. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  9. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Romero, N.B., Monnier, N., Viollet, L., Cortey, A., Chevallay, M., Leroy, J.P., Lunardi, J., Fardeau, M. Brain (2003) [Pubmed]
  10. Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. Tong, J., Oyamada, H., Demaurex, N., Grinstein, S., McCarthy, T.V., MacLennan, D.H. J. Biol. Chem. (1997) [Pubmed]
  11. A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Lynch, P.J., Tong, J., Lehane, M., Mallet, A., Giblin, L., Heffron, J.J., Vaughan, P., Zafra, G., MacLennan, D.H., McCarthy, T.V. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  12. Functional characterization of mutants in the predicted pore region of the rabbit cardiac muscle Ca(2+) release channel (ryanodine receptor isoform 2). Du, G.G., Guo, X., Khanna, V.K., MacLennan, D.H. J. Biol. Chem. (2001) [Pubmed]
  13. Malignant hyperthermia and central core disease in a child with congenital dislocating hips. Eng, G.D., Epstein, B.S., Engel, W.K., McKay, D.W., McKay, R. Arch. Neurol. (1978) [Pubmed]
  14. Prophylactic use of dantrolene in a patient with central core disease. Michalek-Sauberer, A., Gilly, H. Anesth. Analg. (1998) [Pubmed]
  15. Muscle fructose 1,6-diphosphatase deficiency associated with an atypical central core disease. Kar, N.C., Pearson, C.M., Verity, M.A. J. Neurol. Sci. (1980) [Pubmed]
  16. Refined genetic localization for central core disease. Mulley, J.C., Kozman, H.M., Phillips, H.A., Gedeon, A.K., McCure, J.A., Iles, D.E., Gregg, R.G., Hogan, K., Couch, F.J., MacLennan, D.H. Am. J. Hum. Genet. (1993) [Pubmed]
  17. Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Tilgen, N., Zorzato, F., Halliger-Keller, B., Muntoni, F., Sewry, C., Palmucci, L.M., Schneider, C., Hauser, E., Lehmann-Horn, F., Müller, C.R., Treves, S. Hum. Mol. Genet. (2001) [Pubmed]
  18. Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes. Kraev, N., Loke, J.C., Kraev, A., MacLennan, D.H. Anesthesiology (2003) [Pubmed]
  19. Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. Davis, M., Brown, R., Dickson, A., Horton, H., James, D., Laing, N., Marston, R., Norgate, M., Perlman, D., Pollock, N., Stowell, K. British journal of anaesthesia. (2002) [Pubmed]
  20. Ryanodine receptor channelopathies. Benkusky, N.A., Farrell, E.F., Valdivia, H.H. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  21. A cosmid and yeast artificial chromosome contig containing the complete ryanodine receptor (RYR1) gene. Rouquier, S., Giorgi, D., Trask, B., Bergmann, A., Phillips, M.S., MacLennan, D.H., de Jong, P. Genomics (1993) [Pubmed]
  22. Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. Schröder, R., Reimann, J., Salmikangas, P., Clemen, C.S., Hayashi, Y.K., Nonaka, I., Arahata, K., Carpén, O. Neuromuscul. Disord. (2003) [Pubmed]
  23. Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease? Vainzof, M., Muniz, V.P., Tsanaclis, A.M., Silva, H.C., Rusticci, M.S. Genet. Test. (2000) [Pubmed]
  24. Analysis of the spermine synthase gene region in Fugu rubripes, Tetraodon fluviatilis, and Danio rerio. Boeddrich, A., Burgtorf, C., Roest Crollius, H., Hennig, S., Bernot, A., Clark, M., Reinhardt, R., Lehrach, H., Francis, F. Genomics (1999) [Pubmed]
  25. Assignment of the gene for central core disease to chromosome 19. Haan, E.A., Freemantle, C.J., McCure, J.A., Friend, K.L., Mulley, J.C. Hum. Genet. (1990) [Pubmed]
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