Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: An expanded clinical spectrum of POLG1 mutations

Journal of Neurology

Volumn 259, Issue 5, 2012, Pages 862-868

  Tang, Sha ^a   Dimberg, Elliot L ^b   Milone, Margherita ^c   Wong, Lee Jun C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c MAYO CLINIC   (United States)

Author keywords

Leukoencephalopathy; Mitochondrial DNA; MNGIE; POLG1; Pseudo obstruction

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; THYMIDINE;

ALLELE; ARTICLE; ATAXIA; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CLINICAL FEATURE; CONSTIPATION; DIARRHEA; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENOTYPE; HUMAN; LACTIC ACIDOSIS; LEUKOENCEPHALOPATHY; MALE; MITOCHONDRIAL DNA REPLICATION; MNGIE SYNDROME; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; VOMITING;

ADULT; BRAIN; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; GASTROINTESTINAL DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; PHENOTYPE;

EID: 84862572209     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6268-6     Document Type: Article

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