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

Neuromuscul Disord. 2004 Dec;14(12):785-90. doi: 10.1016/j.nmd.2004.08.006.

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 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics*
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology*
  • Myopathy, Central Core / genetics
  • Myopathy, Central Core / pathology
  • Penetrance
  • Phenotype
  • Predictive Value of Tests
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Thigh / pathology

Substances

  • Ryanodine Receptor Calcium Release Channel