Sentences with phrase «congenital fibre type»

Abstract Type 1 ryanodine receptor (RyR1) is preferentially expressed in skeletal muscle, and mutations in the gene have been associated with malignant hyperthermia, a pharmacogenetic disease, and with several congenital myopathies, including central core disease, multiminicore disease, centronuclear myopathy, congenital fibre type disproportion.