title: Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.
authors.affiliation: Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Belgium.
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: I
authors.initials: I
authors.lastname: Desguerre
authors.forename: C
authors.initials: C
authors.lastname: Benelli
authors.forename: C
authors.initials: C
authors.lastname: Marsac
authors.forename: F
authors.initials: F
authors.lastname: Fouque
authors.forename: C
authors.initials: C
authors.lastname: Haenggeli
authors.forename: G
authors.initials: G
authors.lastname: Ponsot
authors.forename: S
authors.initials: S
authors.lastname: Seneca
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
authors.forename: L
authors.initials: L
authors.lastname: De Meirleir
mesh_terms: D001482:Base Composition; D001483:Base Sequence; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000209:etiology / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
chemical_list: D011768:Pyruvate Dehydrogenase Complex