title: Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
authors.affiliation: Department of Biochemistry, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
authors.forename: S G
authors.initials: SG
authors.lastname: Hemalatha
authors.forename: D S
authors.initials: DS
authors.lastname: Kerr
authors.forename: I D
authors.initials: ID
authors.lastname: Wexler
authors.forename: M M
authors.initials: MM
authors.lastname: Lusk
authors.forename: M
authors.initials: M
authors.lastname: Kaung
authors.forename: Y
authors.initials: Y
authors.lastname: Du
authors.forename: M
authors.initials: M
authors.lastname: Kolli
authors.forename: R L
authors.initials: RL
authors.lastname: Schelper
authors.forename: M S
authors.initials: MS
authors.lastname: Patel
mesh_terms: D001483:Base Sequence; D001665:Binding Sites; D001706:Biopsy; D002478:Cells, Cultured; D018076:DNA, Complementary / Q000737:chemistry; D005347:Fibroblasts / Q000737:chemistry / Q000201:enzymology; D006801:Humans; D015151:Immunoblotting; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000737:chemistry / Q000201:enzymology; D009206:Myocardium / Q000737:chemistry / Q000201:enzymology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011768:Pyruvate Dehydrogenase Complex / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000209:etiology / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D017422:Sequence Analysis, DNA; D012867:Skin / Q000166:cytology; D013835:Thiamine Pyrophosphate / Q000378:metabolism*
chemical_list: D018076:DNA, Complementary; D011768:Pyruvate Dehydrogenase Complex; D012333:RNA, Messenger; D013835:Thiamine Pyrophosphate