Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

J Med Genet. 2003 Jul;40(7):e87. doi: 10.1136/jmg.40.7.e87.
No abstract available

Publication types

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

MeSH terms

  • Alternative Splicing / genetics
  • Axons / physiology
  • Base Sequence
  • Child
  • Codon, Nonsense
  • Consanguinity
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Demyelinating Diseases / genetics*
  • Demyelinating Diseases / pathology
  • Demyelinating Diseases / physiopathology
  • Electrophysiology
  • Family Health
  • Female
  • Genotype
  • Humans
  • Male
  • Microscopy, Electron
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / pathology
  • Peripheral Nervous System Diseases / physiopathology
  • Peroneal Nerve / pathology
  • Peroneal Nerve / ultrastructure
  • Phenotype

Substances

  • Codon, Nonsense
  • DNA, Complementary
  • GDAP protein
  • Nerve Tissue Proteins
  • DNA