Two new gene mutations for late onset mitochondrial neurogastrointestinal encephalopathy (mngie)

Gathline Etienne, Khadijah Shamseddine, Michael Pulley, Fatima Milfred

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a multisystem, autosomal recessive disorder characterized by ptosis, progressive external ophthalmoplegia, gastroparesis cachexia, peripheral neuropathy, and diffuse leukoencephalopathy. MNGIE is rare and the prevalence is unknown, however, to date there have been 76 mutations reported in the TYMP gene associated with MNGIE. We report two novel mutations that have not been previously described in a patient with clinical MNGIE syndrome.

Original languageEnglish (US)
Pages (from-to)413-414
Number of pages2
JournalTranslational Neuroscience
Volume3
Issue number4
DOIs
StatePublished - Dec 1 2012

Keywords

  • Deoxyuridine
  • Human gene mutation database (HGMD)
  • Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
  • Nucleoside
  • TYMP gene
  • Thymidine

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