A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

Journal of Neurology

Volumn 259, Issue 1, 2012, Pages 172-174

  Cardaioli, Elena ^a   Sicurelli, Francesco ^a   Carluccio, Maria Alessandra ^a   Gallus, Gian Nicola ^a   Da Pozzo, Paola ^a   Mondelli, Mauro ^b   Margollicci, Maria Antonietta ^a   Micheli, Vanna ^a   Federico, Antonio ^a   Dotti, Maria Teresa ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b Electromyography Service   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

THYMIDINE PHOSPHORYLASE;

ADULT; AMINO ACID SEQUENCE; ANAMNESIS; CASE REPORT; CERVICOBRACHIAL NEURALGIA; DNA EXTRACTION; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; LABORATORY TEST; LETTER; MNGIE SYNDROME; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARESTHESIA; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY;

ACCIDENTS, TRAFFIC; AMINO ACID SEQUENCE; BRAIN; DNA; ERYTHROCYTES; FEMALE; GASTROINTESTINAL DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUTATION; PARESTHESIA; PEPTIDE CHAIN ELONGATION, TRANSLATIONAL; THYMIDINE PHOSPHORYLASE; YOUNG ADULT;

EID: 84856700940     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6113-y     Document Type: Letter

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