Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Internal Medicine

Volumn 45, Issue 7, 2006, Pages 443-446

  Kumagai, Yukie ^a   Sugiura, Yoshihiro ^a   Sugeno, Hidekazu ^a   Takebayashi, Yuji ^a   Takenoshita, Seiichi ^a   Yamamoto, Teiji ^a  

^a FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

Author keywords

CPEO; Mitochondrial myopathy; MNGIE; Thymidine phosphorylase

Indexed keywords

CYTOCHROME C; LACTIC ACID; MITOCHONDRIAL DNA; PYRUVIC ACID; THYMIDINE KINASE; THYMIDINE KINASE 2; THYMIDINE PHOSPHORYLASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CONTRAST RADIOGRAPHY; DIAGNOSTIC VALUE; DISEASE COURSE; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; GASTROINTESTINAL SYMPTOM; GENE AMPLIFICATION; GENE DELETION; GENOTYPE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; JAPAN; MISSENSE MUTATION; MITOCHONDRIAL MYOPATHY; MNGIE SYNDROME; MUTANT; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTROPHOTOMETRY;

ADULT; DNA, MITOCHONDRIAL; FEMALE; GASTROINTESTINAL DISEASES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LEUKOCYTES, MONONUCLEAR; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MUTATION, MISSENSE; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; THYMIDINE KINASE; THYMIDINE PHOSPHORYLASE;

EID: 33646425322     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.45.1371     Document Type: Article

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