Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease

Neurology. 2004 Oct 26;63(8):1535. doi: 10.1212/01.wnl.0000141858.80738.aa.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Charcot-Marie-Tooth Disease / physiopathology
  • Codon, Nonsense / genetics
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Frameshift Mutation / genetics
  • Genetic Predisposition to Disease / genetics
  • Glycogen Storage Disease Type IIb / genetics*
  • Glycogen Storage Disease Type IIb / pathology
  • Glycogen Storage Disease Type IIb / physiopathology*
  • Humans
  • Lysosomal Membrane Proteins / genetics
  • Lysosomal-Associated Membrane Protein 2
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Macular Degeneration / physiopathology
  • Male
  • Muscle Fibers, Skeletal / pathology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology
  • Muscular Diseases / physiopathology
  • Mutation / genetics
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology

Substances

  • Codon, Nonsense
  • LAMP2 protein, human
  • Lysosomal-Associated Membrane Protein 2
  • Lysosomal Membrane Proteins