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

Jungbluth, H; Davis, MR; Muller, C; Counsell, S; Allsop, J; Chattopadhyay, A; Messina, S; ... Muntoni, F; + view all (2004) Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. NEUROMUSCULAR DISORD , 14 (12) 785 - 790. 10.1016/j.nmd.2004.08.006.

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Abstract

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.

Type: Article
Title: Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
DOI: 10.1016/j.nmd.2004.08.006
Keywords: muscle MRI, RYR1 gene, central core disease, multi-minicore disease, CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE INHERITANCE, MUSCULAR-DYSTROPHY, RYANODINE RECEPTOR, GENE, INVOLVEMENT, TOMOGRAPHY
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/111339
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