A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Clinical Neurology and Neurosurgery

Volumn 109, Issue 7, 2007, Pages 613-616

  Kintarak, Jutatip ^a   Liewluck, Teerin ^b   Sangruchi, Tumtip ^b   Hirano, Michio ^c   Kulkantrakorn, Kongkiat ^a   Muengtaweepongsa, Sombat ^a  

^a THAMMASAT UNIVERSITY   (Thailand)

^b MAHIDOL UNIVERSITY   (Thailand)

^c Columbia University College of Physicians and Surgeons ^*  (United States)

Author keywords

ECGF1; Intergenomic communication; Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE; Thymidine phosphorylase

Indexed keywords

DEOXYURIDINE; ENDOTHELIAL CELL GROWTH FACTOR; ENDOTHELIAL CELL GROWTH FACTOR 1; THYMIDINE; THYMIDINE PHOSPHORYLASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD LEVEL; CACHEXIA; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ECGF1 GENE; ELECTROMYOGRAM; FRAMESHIFT MUTATION; GASTROINTESTINAL MOTILITY DISORDER; HISTOCHEMISTRY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MALE; MNGIE SYNDROME; OPHTHALMOPLEGIA; PERIPHERAL NEUROPATHY; PTOSIS; SYMPTOM; VOMITING;

ADULT; BIOPSY; CHROMOSOME ABERRATIONS; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; INTRONS; MALE; MERRF SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; SEQUENCE ANALYSIS, DNA; THAILAND; THYMIDINE PHOSPHORYLASE;

EID: 34347342885     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2007.04.008     Document Type: Article

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