Malignant hyperthermia and central core disease causative mutations in Swedish patients

Acta Anaesthesiologica Scandinavica

Volumn 51, Issue 1, 2007, Pages 50-53

  Broman, M ^a   Islander, G ^a   Muller C R ^b   Ranklev Twetman, E ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Central core disease; Genetic screening; Malignant hyperthermia; Swedish probands

Indexed keywords

ADOLESCENT; ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CENTRAL CORE DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; MALE; MALIGNANT HYPERTHERMIA; POPULATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MIDDLE AGED; MUTATION; MYOPATHY, CENTRAL CORE; POLYMORPHISM, GENETIC; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SWEDEN;

EID: 33845709024     PISSN: 00015172     EISSN: 13996576     Source Type: Journal    
DOI: 10.1111/j.1399-6576.2006.01165.x     Document Type: Article

References (20)

1. Brini M. Ryanodine receptor defects in muscle genetic diseases. Biochem Biophys Res Commun 2004; 322: 1245-55.
2. Hopkins PM. Malignant hyperthermia. Advances in clinical management and diagnosis. Br J Anaesth 2000; 85: 118-28.
3. Ording H, Brancadoro V, Cozzolino S et al. In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group. Acta Anaesthesiol Scand 1997; 41: 955-66.
4. Robinson RL, Curran JL, Ellis FR et al. Multiple interacting gene products may influence susceptibility to malignant hyperthermia. Ann Hum Genet 2000; 64: 307-20.
5. Sei Y, Sambuughin N, Davis E et al. Malignant hyperthermia in North America: genetic screening of the three hot spots in the type 1 ryanodine receptor gene. Anesthesiology 2004; 101: 824-30.
6. Brandt A, Schleithoff L, Jurkatt-Roth K, Klingler W, Baur C, Lehmann-Horn F. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the IVCT. Hum Mol Genet 1999; 8: 2055-62.
7. Kausch K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Müller C. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 1991; 10: 765-9.
8. Quinlivan RM, Müller C, Davis M et al. Central core disease: clinical, pathological, and genetic features. Arch Dis Child 2003; 88: 1051-5.
9. Monnier N, Romero N, Lerale J et al. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet 2001; 22: 2581-92.
10. Tilgen N, Zorzato F, Hallinger-Keller B et al. 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. Hum Mol Genet 2001; 10: 2879-87.
11. Davis MR, Haan E, Jungbluth H et al. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1-gene. Neuromusc Disord 2003; 13: 151-7.
12. Rüffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG. Mutation screening in the ryanodine receptor 1 gene in patients susceptible to malignant hyperthermia who show definitive IVCT-results: identification of three novel mutations. Acta Anaesthesiol Scand 2002; 46: 692-8.
13. Larach MG, Localio AR, Allen GC et al. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology 1994; 80: 771-9.
14. Fagerlund T, Islander G, Twetman ER, Berg KA. A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. Clin Genet 1995; 48: 12-6.
15. Fagerlund T, Ording H, Bendixen D, Berg KA. A search for three known RYR1 gene mutations in 48 Danish families with predisposition to malignant hyperthermia. Clin Genet 1994; 46: 401-4.
16. Hall-Curran JL, Stewart AD, Ball SP, Halsall JP, Hopkins PM, Ellis ER. No C1840 to T mutation in RYR1 in malignant hyperthermia. Hum Mutat 1993; 2: 330.
17. Girard T, Urwyler A, Censier K, Müller CR, Zorzato F, Treves S. Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Hum Mutat 2001; 18: 357-8.
18. Shepherd S, Ellis R, Halsall J, Hopkins P, Robinson R. RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet 2004; 41: e33.
19. Urwyler A, Deufel T, McCarthy T, West S. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 2001; 86: 283-7.
20. Robinson RL, Anetseder MJ, Brancadoro V et al. Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? Eur J Hum Genet 2003; 11: 342-8.