Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers

作者：Libernini Laura; Lupis Chiara; Mastrangelo Mario; Carrozzo Rosalba; Santorelli Filippo Maria; Inghilleri Maurizio; Leuzzi Vincenzo^*

来源：Neuropediatrics, 2012, 43(4): 201-208.

DOI：10.1055/s-0032-1315431

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

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.

• 出版日期2012-8