Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
August 29, 2004
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

Authors: Heinz Jungblutha, Mark R. Davis, Clemens Müller, Serena Counsell, Joanna Allsop, Arijit Chattopadhyay, Sonia Messina, Eugenio Mercuri, Nigel G. Laing, Caroline A. Sewryb, Graeme Bydder, Francesco Muntoni

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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 (nZ9) or confirmed linkage to the RYR1 locus (nZ2). Patients had clinical features of a congenital myopathy with a wide variety of associated histopathological changes. Muscle MR images showed a consistent pattern characterized by (a) within the thigh: selective involvement of vasti, sartorius, adductor magnus and relative sparing of rectus, gracilis and adductor longus; (b) within the lower leg: selective involvement of soleus, gastrocnemii and peroneal group and relative sparing of the tibialis anterior. Our findings indicate that patients with RYR1-related congenital myopathies have a recognizable pattern of muscle involvement irrespective of the variability of associated histopathological findings. Muscle MRI may supplement clinical assessment and aid selection of genetic tests particularly in patients with non-diagnostic or equivocal histopathological features.

Keywords: Muscle MRI; RYR1 gene; Central core disease; Multi-minicore disease

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