title: Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS).
abstract: Three novel mutations in the coding region of E1 alpha gene were found in three PDC-deficient male patients, including a missense mutation (M181V), a 3 bp deletion (AGA, corresponding to R282), and a 16 bp insertion (CAGTGGATCAAGTTTA), causing a frameshift starting with lysine 358 and resulting in decrease of both E1 subunits.
authors.affiliation: Department of Nutrition, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.
authors.forename: A
authors.initials: A
authors.lastname: Tripatara
authors.forename: D S
authors.initials: DS
authors.lastname: Kerr
authors.forename: M M
authors.initials: MM
authors.lastname: Lusk
authors.forename: M
authors.initials: M
authors.lastname: Kolli
authors.forename: J
authors.initials: J
authors.lastname: Tan
authors.forename: M S
authors.initials: MS
authors.lastname: Patel
mesh_terms: D002478:Cells, Cultured; D002675:Child, Preschool; D005347:Fibroblasts / Q000201:enzymology; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D011768:Pyruvate Dehydrogenase Complex / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D011768:Pyruvate Dehydrogenase Complex