A second MNGIE patient without typical mitochondrial skeletal muscle involvement

Elena Cardaioli, Paola Da Pozzo, Edoardo Malfatti, Carla Battisti, Gian Nicola Gallus, Carmen Gaudiano, Marco MacUcci, Alessandro Malandrini, Maria Margollicci, Anna Rubegni, Maria Teresa Dotti, Antonio Federico

Research output: Contribution to journalArticlepeer-review


Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TYMP). Clinically, MNGIE is characterized by gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Most MNGIE patients have signs of mitochondrial dysfunction in skeletal muscle at morphological and enzyme level, as well as mitochondrial DNA depletion, multiple deletions and point mutations. A case without mitochondrial skeletal muscle involvement and with a TYMP splice-acceptor site mutation (c. 215-1 G>C) has been reported. Here, we describe an Italian patient with the same mutation and without mitochondrial skeletal muscle involvement, suggesting a possible genotype-phenotype correlation.

Original languageEnglish
Pages (from-to)491-494
Number of pages4
JournalNeurological Sciences
Issue number4
Publication statusPublished - Aug 2010


  • MNGIE syndrome
  • MtDNA
  • Muscle biopsy
  • Thymidine phosphorylase gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology
  • Medicine(all)


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