Unique PABPN1 gene mutation in a large Bulgarian family with OPMD

J Neurol. 2008 Apr;255(4):609-11. doi: 10.1007/s00415-008-0769-y. Epub 2008 Feb 19.
No abstract available

Publication types

  • Letter

MeSH terms

  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Bulgaria
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant / genetics
  • Genetic Markers
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Heterozygote
  • Humans
  • Inheritance Patterns / genetics
  • Male
  • Middle Aged
  • Muscle Weakness / genetics
  • Muscle Weakness / metabolism
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / physiopathology
  • Muscular Dystrophy, Oculopharyngeal / diagnosis
  • Muscular Dystrophy, Oculopharyngeal / genetics*
  • Muscular Dystrophy, Oculopharyngeal / physiopathology
  • Mutation / genetics*
  • Oxidative Stress / genetics
  • Pedigree
  • Poly(A)-Binding Protein II / genetics*
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • Genetic Markers
  • Poly(A)-Binding Protein II