Hostname: page-component-78c5997874-mlc7c Total loading time: 0 Render date: 2024-11-10T07:56:19.271Z Has data issue: false hasContentIssue false

Familial RYR 1 Mutation Associated with Mild and Severe Central Core Disease

Published online by Cambridge University Press:  02 December 2014

Ekaterina Erendzhinova
Affiliation:
Department of Pediatrics, College of Medicine, University of Saskatchewan, Saskatoon, SK, Canada
Christopher A. Robinson
Affiliation:
Department of Pathology & Laboratory Medicine, College of Medicine, University of Saskatchewan, Saskatoon, SK, Canada
Noel J. Lowry
Affiliation:
Department of Pediatrics, College of Medicine, University of Saskatchewan, Saskatoon, SK, Canada
Edmond G. Lemire*
Affiliation:
Department of Pediatrics, College of Medicine, University of Saskatchewan, Saskatoon, SK, Canada
*
Division of Medical Genetics, Royal University Hospital, 103 Hospital Drive, Saskatoon, Saskatchewan, S7N 0W8, Canada.
Rights & Permissions [Opens in a new window]

Abstract

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Brief Communications
Copyright
Copyright © The Canadian Journal of Neurological 2010

References

1. Wilson, RD, Dent, TE, Traber, DL, McCoy, NR, Allen, CR. Malignant hyperpyrexia with anesthesia. JAMA. 1967;202:1836.CrossRefGoogle ScholarPubMed
2. Jungbluth, H, Zhou, H, Hartley, L, Halliger-Keller, B, Messina, S, Longman, C, et al. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 2005;27; 65(12):19305.CrossRefGoogle ScholarPubMed
3. Wu, S, Ibarra, MC, Malicdan, MC, Murayama, K, Ichihara, Y, Kikuchi, H, et al. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006;129:147080.CrossRefGoogle ScholarPubMed
4. Treves, S, Jungbluth, H, Muntoni, F, Zorzato, F. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol. 2008;8:31926.CrossRefGoogle ScholarPubMed
5. Shepherd, S, Ellis, F, 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.Google Scholar
6. Balshaw, D, Gao, L, Meissner, G. Luminal loop of the ryanodine receptor: a pore-forming segment? Proc Natl Acad Sci USA. 1999;30(96):33457.CrossRefGoogle Scholar
7. Ibarra, MCA, Wu, S, Murayama, K, Minami, N, Ichihara, Y, Kikuchi, H, et al. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006;104:114654.Google Scholar
8. Zhou, H, Jungbluth, H, Sewry, C, Feng, L, Bertini, E, Bushby, K, et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007;130:202436.CrossRefGoogle ScholarPubMed
9. Romero, NB, Monnier, N, Violett, L, Cortey, A, Chevallay, M, Leroy, JP, et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003;126:23419.CrossRefGoogle ScholarPubMed
10. Manzur, AY, Sewry, CA, Ziprin, J, Dubowitz, V, Muntoni, F. A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance. Neuromusc Disord. 1998;8:46773.Google Scholar
11. Ferreiro, A, Monnier, N, Romero, NB, Leroy, J-P, Bonnemann, C, Haenggeli, C-A, et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol. 2002;51:7509.Google Scholar
12. Jungbluth, H, Muller, CR, Halliger-Keller, B, Brockington, M, Brown, SC, Feng, L, et al. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology. 2002;59:2847.Google Scholar