Mitochondrial neurogastrointestinal encephalomyopathy: Novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers

Laura Libernini, Chiara Lupis, Mario Mastrangelo, Rosalba Carrozzo, Filippo Maria Santorelli, Maurizio Inghilleri, Vincenzo Leuzzi

Research output: Contribution to journalArticle

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE, MIM 603041) is an autosomal recessive multisystem disorder occurring due to mutations in a nuclear gene coding for the enzyme thymidine phosphorylase (TYMP). Clinical features of MNGIE include gastrointestinal dysmotility, cachexia, ptosis or ophthalmoparesis, peripheral neuropathy, diffuse leukoencephalopathy, and signs of mitochondrial dysfunction in tissues. We report the clinical and molecular findings in two brothers in whom novel TYMP gene mutations (c.215-13- 215delinsGCGTGA; c.1159 + 2T > A) were associated with different clinical presentations and outcomes.

Original languageEnglish
Pages (from-to)201-208
Number of pages8
JournalNeuropediatrics
Volume43
Issue number4
DOIs
Publication statusPublished - 2012

Keywords

  • children
  • mitochondrial diseases
  • mitochondrial neurogastrointestinal encephalomyopathy
  • thymidine phosphorylase

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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