title: Phenotypic variability in a Spanish family with MNGIE.
abstract: Clinical, biochemical, and genetic features of a Spanish family with mitochondrial neurogastrointestinal encephalomyopathy are reported. The proband presented with severe gastrointestinal dysmotility and the affected sister had extraocular muscle weakness. In both affected individuals, biochemical defects of thymidine phosphorylase and a pathogenic G-to-A transition mutation at nucleotide 435 in the thymidine phosphorylase gene were identified. The first thymidine phosphorylase mutation identified in Spain showed phenotypic variability at onset.
authors.affiliation: Department of Neurology, Hospital Gral, Vall d'Hebron, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Gamez
authors.forename: C
authors.initials: C
authors.lastname: Ferreiro
authors.forename: M L
authors.initials: ML
authors.lastname: Accarino
authors.forename: L
authors.initials: L
authors.lastname: Guarner
authors.forename: S
authors.initials: S
authors.lastname: Tadesse
authors.forename: R A
authors.initials: RA
authors.lastname: Martí
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: N
authors.initials: N
authors.lastname: Raguer
authors.forename: C
authors.initials: C
authors.lastname: Cervera
authors.forename: M
authors.initials: M
authors.lastname: Hirano
mesh_terms: D000328:Adult; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D013030:Spain; D013939:Thymidine Phosphorylase / Q000235:genetics*
chemical_list: D013939:Thymidine Phosphorylase