Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation

J Neurol. 2014 Sep;261(9):1818-9. doi: 10.1007/s00415-014-7428-2. Epub 2014 Jul 15.

Authors

Pankaj Prasun¹, Dwight D Koeberl

Affiliation

¹ Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center 103856, Durham, NC, 27710, USA.

PMID: 25022940
DOI: 10.1007/s00415-014-7428-2

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Brain / pathology*
DNA Polymerase gamma
DNA-Directed DNA Polymerase / genetics*
Heterozygote
Humans
Magnetic Resonance Imaging*
Male
Mitochondrial Encephalomyopathies / diagnosis*
Mitochondrial Encephalomyopathies / genetics*
Mitochondrial Encephalomyopathies / pathology
Mutation
Phenotype

Substances

DNA Polymerase gamma
DNA-Directed DNA Polymerase
POLG protein, human