The DOI matches its Crossref record; 71 of the 71 references it cites were found in a registry or an index.
Mutations in RYR1 in malignant hyperthermia and central core disease
Open accessAbstract
The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation-contraction coupling and skeletal muscle calcium homeostasis. Mapping to chromosome 19q13.2, the gene comprises 106 exons and encodes a protein of 5,038 amino acids. Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia (MH); and three congenital myopathies, including central core disease (CCD), multiminicore disease (MmD), and in an isolated case of a congenital myopathy characterized on histology by cores and rods. The majority of gene mutations reported are missense changes identified in cases of MH and CCD. In vitro analysis has confirmed that alteration of normal calcium homeostasis is a functional consequence of some of these changes. Genotype-phenotype correlation studies performed using data from MH and CCD patients have also suggested that mutations may be associated with a range of disease severity phenotypes. This review aims to summarize the current understanding of RYR1 mutations reported in association with MH and CCD and the present viewpoint on the use of mutation data to aid clinical diagnosis of these conditions.
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Cites
Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia
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Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
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Ryanodine receptor mutations in malignant hyperthermia and central core disease
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Cited by
Signaling in Muscle Contraction
Kuo, I. Y., & Ehrlich, B. E. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a006023 · Cited by 424
Aracena-Parks, P., Goonasekera, S. A., Gilman, C. P., Dirksen, R. T., Hidalgo, C., & Hamilton, S. L. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m600876200 · Cited by 254
Minding the calcium store: Ryanodine receptor activation as a convergent mechanism of PCB toxicity
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Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies
Vladutiu, G. D., Isackson, P. J., Kaufman, K., Harley, J. B., Cobb, B., Christopher-Stine, L., & Wortmann, R. L. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.07.001 · Cited by 63
Malignant Hyperthermia: A Pharmacogenetic Disorder
Stowell, K. M. (2008) · Pharmacogenomics · doi:10.2217/14622416.9.11.1657 · Cited by 52
Metadata
- Authors
- Robinson, R., Carpenter, D., Shaw, M.-A., Halsall, J., & Hopkins, P.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2006-10
- Volume
- 27
- Issue
- 10
- Pages
- 977-989
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2000931006
- Cited by
- 502
- References
- 71
- FWCI
- 9.70
- Type
- journal article
- Language
- en
- Open access
- bronze
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