Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency

J Inherit Metab Dis. 1994;17(1):153-5. doi: 10.1007/BF00735424.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / enzymology
  • Arthrogryposis / genetics*
  • Fibroblasts / enzymology
  • Glycogen Storage Disease / enzymology
  • Glycogen Storage Disease / genetics
  • Humans
  • Infant
  • Male
  • Muscles / enzymology*
  • Phosphorylase Kinase / deficiency*
  • Respiratory Insufficiency / enzymology
  • Respiratory Insufficiency / genetics*

Substances

  • Phosphorylase Kinase