Gastrointestinal Tract Involvement Associated With the 3243A>G Mitochondrial DNA Mutation

Neurology. 2008 Apr 8;70(15):1290-2. doi: 10.1212/01.wnl.0000308940.38092.74.

Publication types

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

MeSH terms

  • Adenine / metabolism
  • Adult
  • Base Sequence / genetics
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / genetics
  • Electron Transport Complex IV / metabolism
  • Energy Metabolism / genetics
  • Fatal Outcome
  • Female
  • Gastrointestinal Diseases / genetics*
  • Gastrointestinal Diseases / metabolism
  • Gastrointestinal Diseases / physiopathology*
  • Gastrointestinal Motility / genetics
  • Gastrointestinal Tract / metabolism
  • Gastrointestinal Tract / pathology
  • Gastrointestinal Tract / physiopathology
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Guanine / metabolism
  • Humans
  • MELAS Syndrome / genetics
  • MELAS Syndrome / physiopathology
  • Middle Aged
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Diseases / physiopathology*
  • Myocytes, Smooth Muscle / metabolism
  • Myocytes, Smooth Muscle / pathology
  • Point Mutation / genetics*

Substances

  • DNA, Mitochondrial
  • Genetic Markers
  • Guanine
  • Electron Transport Complex IV
  • Adenine