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Novel RYR1 missense mutation causes core rod myopathy.

AuthorsM von der Hagen, W Kress, G Hahn, K S Brocke, P Mitzscherling, A Huebner, C Müller-Reible, G Stoltenburg-Didinger, A M Kaindl
JournalEuropean journal of neurology (Eur J Neurol) Vol. 15 Issue 4 Pg. e31-2 (Apr 2008) ISSN: 1468-1331 [Electronic] England
PMID18312400 (Publication Type: Case Reports, Letter)
Chemical References
  • Ryanodine Receptor Calcium Release Channel
Topics
  • Adolescent
  • Afghanistan (ethnology)
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Muscle, Skeletal (pathology)
  • Mutation, Missense (genetics)
  • Myopathies, Nemaline (etiology, genetics, pathology)
  • Ryanodine Receptor Calcium Release Channel (genetics)

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