Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

Clin Genet. 2011 Sep;80(3):297-300. doi: 10.1111/j.1399-0004.2011.01650.x.
No abstract available

Publication types

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

MeSH terms

  • ATP Synthetase Complexes / deficiency
  • ATP Synthetase Complexes / genetics*
  • ATPase Inhibitory Protein
  • Acidosis / genetics*
  • Acidosis / metabolism
  • Acidosis / pathology
  • Cardiomegaly / genetics*
  • Cardiomegaly / metabolism
  • Cardiomegaly / pathology
  • Child
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Fetal Growth Retardation / genetics*
  • Fetal Growth Retardation / metabolism
  • Fetal Growth Retardation / pathology
  • Glutarates / metabolism*
  • H(+)-K(+)-Exchanging ATPase / deficiency
  • H(+)-K(+)-Exchanging ATPase / genetics
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / metabolism
  • Intellectual Disability / pathology
  • Male
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics*
  • Mitochondrial Proteins / deficiency
  • Mitochondrial Proteins / genetics*
  • Proteins / genetics
  • Proteins / metabolism
  • Sequence Deletion

Substances

  • Glutarates
  • Membrane Proteins
  • Mitochondrial Proteins
  • Proteins
  • TMEM70 protein, human
  • 3-methylglutaconic acid
  • ATP Synthetase Complexes
  • ATP12A protein, human
  • H(+)-K(+)-Exchanging ATPase