A study of a family with the skeletal muscle RYR1 mutation (c.7354C %26gt; T) associated with central core myopathy and malignant hyperthermia susceptibility

作者：Taylor A^*; Lachlan K; Manners R M; Lotery A J

来源：Journal of Clinical Neuroscience, 2012, 19(1): 65-70.

DOI：10.1016/j.jocn.2011.05.010

• Congenital myopathy
• Malignant hyperthermia
• Ptosis
• Ryanodine receptor

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%26gt;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.

• 出版日期2012-1