Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

Neurology. 2008 Mar 18;70(12):976-8. doi: 10.1212/01.wnl.0000305963.37449.32.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics*
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1 / genetics*
  • DNA Mutational Analysis
  • Gaucher Disease / complications
  • Gaucher Disease / genetics*
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Glucosylceramidase / deficiency
  • Glucosylceramidase / genetics
  • Hearing Loss, Sensorineural / genetics
  • Hepatomegaly / genetics
  • Homozygote
  • Humans
  • Inheritance Patterns / genetics
  • Male
  • Microsatellite Repeats / genetics
  • Mutation
  • Myelin P0 Protein / genetics
  • Pupil Disorders / genetics
  • Uniparental Disomy / genetics*

Substances

  • Genetic Markers
  • Myelin P0 Protein
  • Glucosylceramidase