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Phenotypic and histologic heterogeneity in RYR1 gene
What are the phenotypic and histologic heterogeneity associated with mutations in the ryanodine receptor ( RYR1 ) gene?
The ryanodine receptor ( RYR1 ), which functions in skeletal muscle excitation–contraction coupling, is the most common cause of congenital myopathy and has been implicated in a wide spectrum of diseases ranging from mild, nonprogressive, proximal muscle weakness, to severe congenital muscular dystrophy.
Additionally, mutations in RYR1 are also known to cause malignant hyperthermia in response to anesthesia or heat, exercise-induced rhabdomyolysis, and isolated hyperCKemia.
Histologically, mutations in RYR1 may result in central core disease, multiminicore disease, centronuclear myopathy, and congenital fiber type disproportion.
Inheritance may be autosomal dominant or recessive.
