Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations

Neurology. 2009 Mar 24;72(12):1103-5. doi: 10.1212/01.wnl.0000345002.47396.e1.
No abstract available

Publication types

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

MeSH terms

  • Cytochrome-c Oxidase Deficiency / genetics
  • Cytochrome-c Oxidase Deficiency / physiopathology
  • DNA Mutational Analysis
  • DNA Polymerase gamma
  • DNA, Mitochondrial / metabolism
  • DNA-Directed DNA Polymerase / genetics*
  • Fatal Outcome
  • Gastrointestinal Diseases / congenital*
  • Gastrointestinal Diseases / diagnosis
  • Gastrointestinal Diseases / genetics*
  • Gastrointestinal Tract / metabolism
  • Gastrointestinal Tract / pathology
  • Gastrointestinal Tract / physiopathology
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Infant, Newborn
  • Intestinal Pseudo-Obstruction / complications*
  • Intestinal Pseudo-Obstruction / diagnosis
  • Intestinal Pseudo-Obstruction / genetics*
  • Male
  • Muscle Weakness / congenital
  • Muscle Weakness / genetics
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscle, Smooth / metabolism
  • Muscle, Smooth / pathology
  • Muscle, Smooth / physiopathology
  • Muscular Diseases / congenital*
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Mutation, Missense / genetics*
  • Respiratory Insufficiency / genetics
  • Respiratory Insufficiency / physiopathology
  • Syndrome

Substances

  • DNA, Mitochondrial
  • Genetic Markers
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human