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… - Neuromuscular …, 2003 - Elsevier
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 …
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 …