title: Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy.
authors.affiliation: Institut de Bioquímica Clínica, Cerdanyola, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: M J
authors.initials: MJ
authors.lastname: López
authors.forename: L
authors.initials: L
authors.lastname: De Meirleir
authors.forename: A
authors.initials: A
authors.lastname: Ribes
authors.forename: M
authors.initials: M
authors.lastname: Rodés
authors.forename: C
authors.initials: C
authors.lastname: Martinez-Costa
authors.forename: M
authors.initials: M
authors.lastname: Peris
authors.forename: W
authors.initials: W
authors.lastname: Lissens
mesh_terms: D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000209:etiology*; D008297:Male; D017354:Point Mutation; D030481:Pyruvate Dehydrogenase (Lipoamide); D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications*
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D030481:Pyruvate Dehydrogenase (Lipoamide)