Congenital myopathy with focal loss of cross-striations revisited

Neuromuscul Disord. 2013 Feb;23(2):160-4. doi: 10.1016/j.nmd.2012.08.010. Epub 2012 Nov 3.


In 1977 Wijngaarden et al. reported a Dutch family with a congenital myopathy characterized by external ophthalmoplegia and a remarkable histological feature, focal loss of cross-striations. A small number of other families with similar clinical and pathological features led to the consideration of this congenital myopathy as a distinct entity. Here we present more than 30years of follow-up from the Dutch family and report recently identified compound heterozygous mutations in the skeletal muscle ryanodine receptor (RYR1) gene, c.10627-2A>G and p.Arg3539His (c.10616G>A). Focal loss of cross-striations on muscle biopsy is another histopathological feature that should raise the possibility of RYR1 involvement.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Comorbidity
  • Eye Diseases, Hereditary / epidemiology*
  • Eye Diseases, Hereditary / genetics
  • Eye Diseases, Hereditary / pathology*
  • Female
  • Fibrosis / epidemiology*
  • Fibrosis / genetics
  • Fibrosis / pathology*
  • Follow-Up Studies
  • Heterozygote
  • Humans
  • Male
  • Muscle, Skeletal / pathology*
  • Mutation / genetics
  • Myotonia Congenita / epidemiology*
  • Myotonia Congenita / genetics
  • Myotonia Congenita / pathology*
  • Netherlands
  • Ocular Motility Disorders / epidemiology*
  • Ocular Motility Disorders / genetics
  • Ocular Motility Disorders / pathology*
  • Pedigree
  • Ryanodine Receptor Calcium Release Channel / genetics


  • Ryanodine Receptor Calcium Release Channel

Supplementary concepts

  • Fibrosis of Extraocular Muscles, Congenital, 3B