Article
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
Neuromuscular disorders : NMD - 1 Dec 2004
Jungbluth Heinz, Davis Mark R, Müller Clemens, Counsell Serena, Allsop Joanna, Chattopadhyay Arijit, Messina Sonia, Mercuri Eugenio, Laing Nigel G, Sewry Caroline A, Bydder Graeme, Muntoni Francesco
Abstract excerpt
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are associated with a wide range of phenotypes, comprising central core disease and distinct subgroups of multi-minicore disease. We report muscle MRI findings of 11 patients from eight families with RYR1 mutations (n=9) or confirmed linkage to the RYR1 locus (n=2). Patients had clinical features of a congenital myopathy with a wide variety of...
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