Modification of CMT1 phenotypes by the independent coexisting neurogenetic disorders, McArdle disease and chromosome 5p trisomy

Ann N Y Acad Sci. 1999 Sep 14:883:472-6.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / complications*
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Child
  • Chromosomes, Human, Pair 5*
  • Female
  • Glycogen Storage Disease Type V / complications*
  • Glycogen Storage Disease Type V / diagnosis
  • Glycogen Storage Disease Type V / genetics*
  • Humans
  • Male
  • Membrane Proteins*
  • Myelin and Lymphocyte-Associated Proteolipid Proteins
  • Nerve Tissue Proteins*
  • Proteolipids / genetics
  • Trisomy*

Substances

  • Membrane Proteins
  • Myelin and Lymphocyte-Associated Proteolipid Proteins
  • Nerve Tissue Proteins
  • PLLP protein, human
  • Proteolipids