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 journalArticle

10 Citations (Scopus)

Abstract

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
Volume31
Issue number4
DOIs
Publication statusPublished - Aug 2010

Fingerprint

Mitochondrial Encephalomyopathies
Thymidine Phosphorylase
Skeletal Muscle
Mutation
Leukoencephalopathies
Ophthalmoplegia
RNA Splice Sites
Cachexia
Sequence Deletion
Genetic Association Studies
Peripheral Nervous System Diseases
Mitochondrial DNA
Point Mutation
Enzymes
Genes

Keywords

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

ASJC Scopus subject areas

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

Cite this

Cardaioli, E., Da Pozzo, P., Malfatti, E., Battisti, C., Gallus, G. N., Gaudiano, C., ... Federico, A. (2010). A second MNGIE patient without typical mitochondrial skeletal muscle involvement. Neurological Sciences, 31(4), 491-494. https://doi.org/10.1007/s10072-010-0225-5

A second MNGIE patient without typical mitochondrial skeletal muscle involvement. / Cardaioli, Elena; Da Pozzo, Paola; Malfatti, Edoardo; Battisti, Carla; Gallus, Gian Nicola; Gaudiano, Carmen; MacUcci, Marco; Malandrini, Alessandro; Margollicci, Maria; Rubegni, Anna; Dotti, Maria Teresa; Federico, Antonio.

In: Neurological Sciences, Vol. 31, No. 4, 08.2010, p. 491-494.

Research output: Contribution to journalArticle

Cardaioli, E, Da Pozzo, P, Malfatti, E, Battisti, C, Gallus, GN, Gaudiano, C, MacUcci, M, Malandrini, A, Margollicci, M, Rubegni, A, Dotti, MT & Federico, A 2010, 'A second MNGIE patient without typical mitochondrial skeletal muscle involvement', Neurological Sciences, vol. 31, no. 4, pp. 491-494. https://doi.org/10.1007/s10072-010-0225-5
Cardaioli E, Da Pozzo P, Malfatti E, Battisti C, Gallus GN, Gaudiano C et al. A second MNGIE patient without typical mitochondrial skeletal muscle involvement. Neurological Sciences. 2010 Aug;31(4):491-494. https://doi.org/10.1007/s10072-010-0225-5
Cardaioli, Elena ; Da Pozzo, Paola ; Malfatti, Edoardo ; Battisti, Carla ; Gallus, Gian Nicola ; Gaudiano, Carmen ; MacUcci, Marco ; Malandrini, Alessandro ; Margollicci, Maria ; Rubegni, Anna ; Dotti, Maria Teresa ; Federico, Antonio. / A second MNGIE patient without typical mitochondrial skeletal muscle involvement. In: Neurological Sciences. 2010 ; Vol. 31, No. 4. pp. 491-494.
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