A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members

Parkinsonism Relat Disord. 2018 Sep;54:116-118. doi: 10.1016/j.parkreldis.2018.04.001. Epub 2018 Apr 3.
No abstract available

Keywords: Genotype-driven treatment; Klinefelter syndrome; MERRF/Leigh-like syndrome; Mitochondrial DNA mutation; Neurogenetics.

Publication types

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

MeSH terms

  • Adult
  • DNA, Mitochondrial / genetics*
  • Genetic Testing
  • Humans
  • Klinefelter Syndrome / diagnostic imaging
  • Klinefelter Syndrome / genetics*
  • Klinefelter Syndrome / physiopathology*
  • Male
  • Mitochondrial Encephalomyopathies / diagnostic imaging
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / physiopathology*
  • Mutation
  • Pedigree

Substances

  • DNA, Mitochondrial