Journal article

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

MR Davis, E Haan, H Jungbluth, C Sewry, K North, F Muntoni, T Kuntzer, P Lamont, A Bankier, P Tomlinson, A Sanchez, P Walsh, L Nagarajan, C Oley, A Colley, A Gedeon, R Quinlivan, J Dixon, D James, CR Muller Show all

NEUROMUSCULAR DISORDERS | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2003

Abstract

The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). Two recent reports have identified the 3' transmembrane domain of this gene as a common site for mutations. Two other studies have reported single families that have features of both central c..

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