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

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Translational Neuroscience

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.

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Authors and Affiliations

  1. Department of Neurology, University of Florida College of Medicine-Jacksonvill, Florida, USA

    Gathline Etienne, Khadijah Shamseddine, Michael Pulley & Fatima Milfred

Authors
  1. Gathline Etienne
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  2. Khadijah Shamseddine
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  3. Michael Pulley
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  4. Fatima Milfred
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Corresponding authors

Correspondence to Michael Pulley or Fatima Milfred.

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Etienne, G., Shamseddine, K., Pulley, M. et al. Two new gene mutations for late onset mitochondrial neurogastrointestinal encephalopathy (MNGIE). Translat.Neurosci. 3, 413–414 (2012). https://doi.org/10.2478/s13380-012-0042-9

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  • DOI: https://doi.org/10.2478/s13380-012-0042-9

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