title: Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.
abstract: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE, MIM 603041) is an autosomal recessive multisystem disorder occurring due to mutations in a nuclear gene coding for the enzyme thymidine phosphorylase (TYMP). Clinical features of MNGIE include gastrointestinal dysmotility, cachexia, ptosis or ophthalmoparesis, peripheral neuropathy, diffuse leukoencephalopathy, and signs of mitochondrial dysfunction in tissues. We report the clinical and molecular findings in two brothers in whom novel TYMP gene mutations (c.215-13_215delinsGCGTGA; c.1159 + 2T > A) were associated with different clinical presentations and outcomes.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Libernini
authors.forename: Chiara
authors.initials: C
authors.lastname: Lupis
authors.forename: Mario
authors.initials: M
authors.lastname: Mastrangelo
authors.forename: Rosalba
authors.initials: R
authors.lastname: Carrozzo
authors.forename: Filippo Maria
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Inghilleri
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000235:genetics* / Q000473:pathology; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D039141:Muscular Dystrophy, Oculopharyngeal; D009154:Mutation / Q000235:genetics*; D009886:Ophthalmoplegia / Q000151:congenital; D035781:Siblings; D013939:Thymidine Phosphorylase / Q000235:genetics*; D028361:Mitochondrial Diseases
chemical_list: D013939:Thymidine Phosphorylase