Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

Histopathology. 2009 May;54(6):765-8. doi: 10.1111/j.1365-2559.2009.03281.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 1,4-alpha-Glucan Branching Enzyme / genetics
  • Glycogen Storage Disease Type III / pathology*
  • Humans
  • Infant
  • Male
  • Muscle Hypotonia / congenital*
  • Muscle Weakness / diagnosis*
  • Muscle Weakness / genetics
  • Quadriceps Muscle / pathology

Substances

  • 1,4-alpha-Glucan Branching Enzyme