Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE

Neuromuscular Disorders

Volumn 15, Issue 11, 2005, Pages 775-778

  Blazquez, A ^a   Martin M A ^a   Lara, M C ^b   Marti R ^b   Campos, Y ^a   Cabello, A ^a   Garesse, R ^c   Bautista, J ^d   Andreu, A L ^b   Arenas, J ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

Mitochondrial disorders; Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE); Thymidine phosphorylase

Indexed keywords

CYTOCHROME C OXIDASE; DEOXYURIDINE; THYMIDINE; UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; ANAMNESIS; ARTICLE; BASE PAIRING; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; ENCEPHALOMYOPATHY; EXON; FRAMESHIFT MUTATION; GENE DELETION; HISTOCHEMISTRY; HOMOZYGOSITY; HUMAN; MALE; MITOCHONDRIAL GASTROINTESTINAL ENCEPHALOMYOPATHY; MITOCHONDRIAL RESPIRATION; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RESPIRATORY CHAIN; SIBLING; SOUTHERN BLOTTING; WILD TYPE;

BLOTTING, SOUTHERN; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; FRAMESHIFT MUTATION; GASTROINTESTINAL DISEASES; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MULTIENZYME COMPLEXES; MUSCLES; NUCLEOSIDES; SPAIN; THYMIDINE PHOSPHORYLASE;

EID: 26944483130     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2005.07.008     Document Type: Article

References (10)

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