Novel RYR1 missense mutation causes core rod myopathy

Eur J Neurol. 2008 Apr;15(4):e31-2. doi: 10.1111/j.1468-1331.2008.02094.x. Epub 2008 Feb 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Afghanistan / ethnology
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Muscle, Skeletal / pathology
  • Mutation, Missense / genetics*
  • Myopathies, Nemaline / etiology*
  • Myopathies, Nemaline / genetics*
  • Myopathies, Nemaline / pathology
  • Ryanodine Receptor Calcium Release Channel / genetics*

Substances

  • Ryanodine Receptor Calcium Release Channel