Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

H. Jungbluth, M.R. Davis, C. Muller, S. Counsell, J. Allsop, A. Chattopadhyay, S. Messina, E. Mercuri, Nigel Laing, C.A. Sewry, G. Bydder, F. 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 (n =9) or confirmed linkage to the RYR1 locus (n =2). Patients had clinical features of a congenial 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. (C) 2004 Elsevier B.V. All rights reserved.
Original languageEnglish
Pages (from-to)785-790
JournalNeuromuscular Disorders
Issue number12
Publication statusPublished - 2004

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