Phenotypic variability in a Spanish family with MNGIE

Neurology

Volumn 59, Issue 3, 2002, Pages 455-457

  Gamez, J ^a   Ferreiro, C ^b   Accarino, M L ^a   Guarner, L ^a   Tadesse, S ^b   Marti R A ^b   Andreu, A L ^a   Raguer, N ^a   Cervera, C ^a   Hirano, M ^b  

^a Anestesiologo Intensivista Del Curso de Anestesia en el Paciente Politraumatizado Grave   (Spain)

^b College of Physicians and Surgeons ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

THYMIDINE PHOSPHORYLASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ENCEPHALOMYOPATHY; FAMILY; FEMALE; GENE MUTATION; HUMAN; MNGIE SYNDROME; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SPAIN;

EID: 0037072280     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.59.3.455     Document Type: Article

References (10)

1. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
2. MNGIE: An autosomal recessive disorder due to thymidine phosphorylase mutations
3. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
4. Altered thymidine metabolism due to defects of thymidine phosphorylase
5. PHD: Predicting one-dimensional protein structure by profile-based neural networks
6. Thymidylate nucleotide supply for mitochondrial DNA synthesis in mouse L-cells
7. Unusual compartment of precursors for nuclear and mitochondrial DNA in mouse L cells
8. Selective expansion of mitochondrial nucleoside triphosphate pools in antimetabolite-treated HeLa cells
9. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
10. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy