Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Molecular Medicine Reports

Volumn 8, Issue 1, 2013, Pages 17-22

  Suh, Bum Chun ^a   Jeong, Ha Neul ^a   Yoon, Byung Suk ^a   Park, Ji Hoon ^b   Kim, Hye Jin ^b   Park, Sun Wha ^c   Hwang, Jung Hee ^c   Choi, Byung Ok ^d   Chung, Ki Wha ^b  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Kongju National University   (South Korea)

^c Ewha Womans University School of Medicine   (South Korea)

^d Mokdong Hospital   (South Korea)

Author keywords

Korean; Mitochondrial DNA; Mitochondrial neurogastrointestinal encephalomyopathy; Mutation; TYMP

Indexed keywords

MITOCHONDRIAL DNA; THYMIDINE PHOSPHORYLASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEMYELINATING DISEASE; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GASTROINTESTINAL SYMPTOM; GENETIC ANALYSIS; HUMAN; MISSENSE MUTATION; MNGIE SYNDROME; ONSET AGE; PHENOTYPE; POINT MUTATION; POLYNEUROPATHY; RETINOPATHY;

ADULT; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN; DNA, MITOCHONDRIAL; FEMALE; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; THYMIDINE PHOSPHORYLASE;

EID: 84878962995     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2013.1479     Document Type: Article

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