Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy

Am J Med Genet A. 2005 Jun 1;135(2):217-9. doi: 10.1002/ajmg.a.30672.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • DNA Mutational Analysis
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Family Health
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / pathology
  • Pedigree
  • Peripheral Nervous System Diseases / pathology*
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Tremor / pathology*

Substances

  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human