Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Neuromuscular Disorders

Volumn 19, Issue 12, 2009, Pages 837-840

  Massa, Roberto ^a   Tessa, Alessandra ^b   Margollicci, Maria ^c   Micheli, Vanna ^c   Romigi, Andrea ^a   Tozzi, Giulia ^b   Terracciano, Chiara ^a   Piemonte, Fiorella ^b   Bernardi, Giorgio ^a   Santorelli, Filippo M ^b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

Author keywords

Late onset; Mitochondrial disease; MNGIE; Peripheral neuropathy; Thymidine phosphorylase; TYMP ECGF1 mutations

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE; THYMIDINE PHOSPHORYLASE;

ABDOMINAL DISTENSION; ABDOMINAL PAIN; AGED; ARTICLE; ATAXIA; CACHEXIA; CASE REPORT; DIPLOPIA; EYE MOVEMENT DISORDER; FEMALE; GAIT DISORDER; HEADACHE; HETEROZYGOSITY; HUMAN; INTESTINAL BLEEDING; INTESTINAL DYSMOTILITY; INTESTINE ULCER; LEUKOENCEPHALOPATHY; MELENA; MEMORY DISORDER; MISSENSE MUTATION; MNGIE SYNDROME; MUSCLE ATROPHY; OPHTHALMOPLEGIA; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PERITONEUM ADHESION; PERITONITIS; PRIORITY JOURNAL; PTOSIS; SEQUENCE ANALYSIS; SHORT TERM MEMORY; SKIN FIBROBLAST; SMALL INTESTINE PERFORATION; SPATIAL MEMORY; TREMOR; UNCONSCIOUSNESS; VISUAL MEMORY; VOMITING;

AGE OF ONSET; BRAIN; CELLS, CULTURED; FEMALE; FIBROBLASTS; HUMANS; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; MUTATION, MISSENSE; PERIPHERAL NERVES; PHENOTYPE; THYMIDINE; THYMIDINE PHOSPHORYLASE;

EID: 70449533675     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.08.013     Document Type: Article

References (13)

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