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Neuropediatrics 2012; 43(04): 201-208
DOI: 10.1055/s-0032-1315431
DOI: 10.1055/s-0032-1315431
Short Communication
Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers
Further Information
Publication History
07 July 2011
24 April 2012
Publication Date:
22 May 2012 (online)
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.
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References
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