title: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center 103856, Durham, NC, 27710, USA.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Prasun
authors.forename: Dwight D
authors.initials: DD
authors.lastname: Koeberl
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010641:Phenotype
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human