A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility
Taylor, A., Lachlan, Katherine, Manners, R.M. and Lotery, Andrew J. (2012) A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. Journal of Clinical Neuroscience, 19, (1), 65-70. (doi:10.1016/j.jocn.2011.05.010). (PMID:22030266).
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Congenital myopathies are early onset hereditary muscle disorders. A sub-group of these is associated with malignant hyperthermia susceptibility. Mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with various congenital myopathy phenotypes and may also cause malignant hyperthermia susceptibility. We describe nine affected members of an extended family presenting with a myopathy typically manifesting as upper eye lid ptosis, quadriceps atrophy and patellar dislocation. Three affected members underwent extensive genetic testing and have a RYR1 exon 46 c.7354C>T gene mutation; two of whom had muscle biopsies--both demonstrated central core myopathy. The only affected family member who underwent testing for malignant hyperthermia susceptibility was shown to be positive. The clinical phenotypes seen among affected family members varies widely in severity, and have features in common with those congenital myopathies associated with malignant hyperthermia susceptibility, raising the possibility that these conditions represent a spectrum of disease.
|Keywords:||congenital myopathy, malignant hyperthermia, ptosis, ryanodine receptor|
|Subjects:||R Medicine > RB Pathology
R Medicine > RC Internal medicine
|Divisions:||Faculty of Medicine > Infection, Inflammation and Immunity
|Date Deposited:||17 May 2012 15:49|
|Last Modified:||26 Jul 2012 00:40|
|Contributors:||Taylor, A. (Author)
Lachlan, Katherine (Author)
Manners, R.M. (Author)
Lotery, Andrew J. (Author)
|RDF:||RDF+N-Triples, RDF+N3, RDF+XML, Browse.|
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