Clinical utility gene card for: Multi-minicore disease

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.180. Epub 2011 Oct 19.
No abstract available

MeSH terms

  • Arthrogryposis / diagnosis
  • Arthrogryposis / genetics*
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 19
  • Genetic Testing / methods
  • Humans
  • Muscle Proteins / genetics*
  • Mutation
  • Prognosis
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Selenoproteins / genetics*
  • Sensitivity and Specificity

Substances

  • Muscle Proteins
  • Ryanodine Receptor Calcium Release Channel
  • SELENON protein, human
  • Selenoproteins

Supplementary concepts

  • Minicore myopathy, antenatal onset, with arthrogryposis