Case records of the Massachusetts General Hospital. Case 35-2006. A newborn boy with hypotonia

N Engl J Med. 2006 Nov 16;355(20):2132-42. doi: 10.1056/NEJMcpc069026.
No abstract available

Publication types

  • Case Reports
  • Clinical Conference

MeSH terms

  • Brain / pathology
  • Creatine Kinase / blood
  • Diagnosis, Differential
  • Dystrophin / metabolism
  • Dystrophin-Associated Protein Complex / chemistry
  • Dystrophin-Associated Protein Complex / metabolism
  • Glycoproteins / metabolism
  • Humans
  • Infant, Newborn
  • Laminin / deficiency*
  • Laminin / genetics
  • Male
  • Muscle Hypotonia / etiology*
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology
  • Mutation
  • Quadriceps Muscle / pathology*

Substances

  • Dystrophin
  • Dystrophin-Associated Protein Complex
  • Glycoproteins
  • Laminin
  • laminin alpha 2
  • Creatine Kinase