Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A

N Engl J Med. 1996 Apr 25;334(17):1100-4. doi: 10.1056/NEJM199604253341705.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphate / analysis
  • Base Sequence
  • Child, Preschool
  • Erythrocytes / enzymology
  • Erythrocytes / metabolism
  • Fructose-Bisphosphate Aldolase / deficiency
  • Fructose-Bisphosphate Aldolase / genetics*
  • Fructose-Bisphosphate Aldolase / metabolism
  • Hemolysis / genetics*
  • Humans
  • Male
  • Microscopy, Electron
  • Molecular Sequence Data
  • Muscle Fatigue / genetics
  • Muscle Weakness / genetics*
  • Muscle Weakness / pathology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / ultrastructure
  • Point Mutation*

Substances

  • Adenosine Triphosphate
  • Fructose-Bisphosphate Aldolase