Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit

Hum Mol Genet. 1995 Feb;4(2):315-8. doi: 10.1093/hmg/4.2.315.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Binding Sites
  • Biopsy
  • Cells, Cultured
  • DNA, Complementary / chemistry
  • Fibroblasts / chemistry
  • Fibroblasts / enzymology
  • Humans
  • Immunoblotting
  • Infant
  • Male
  • Molecular Sequence Data
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / enzymology
  • Myocardium / chemistry
  • Myocardium / enzymology
  • Point Mutation*
  • Polymerase Chain Reaction
  • Pyruvate Dehydrogenase Complex / chemistry
  • Pyruvate Dehydrogenase Complex / genetics*
  • Pyruvate Dehydrogenase Complex / metabolism
  • Pyruvate Dehydrogenase Complex Deficiency Disease / etiology
  • Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*
  • RNA, Messenger / analysis
  • Sequence Analysis, DNA
  • Skin / cytology
  • Thiamine Pyrophosphate / metabolism*

Substances

  • DNA, Complementary
  • Pyruvate Dehydrogenase Complex
  • RNA, Messenger
  • Thiamine Pyrophosphate