期刊
CLINICAL NEUROLOGY AND NEUROSURGERY
卷 111, 期 8, 页码 691-694出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.clineuro.2009.05.005
关键词
Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE; TYMP; Thymidine phosphorylase; Mutation; Intergenomic communication
资金
- Fonds cle Recherche en Sante du Quebec (FRSQ) [015102]
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder characterized by gastrointestinal, extraocular muscle, peripheral nerve, and cerebral white matter involvement. Mutations in the nuclear gene TYMP encoding for thymidine phosphorylase (TP) cause loss of TP activity, systemic accumulation of its substrates in plasma and tissues, as well as alterations in mitochondrial DNA including deletions, depletion, and somatic point mutations. To date, more than 30 mutations have been reported in diverse ethnic populations. We present herein the clinical, neuroimaging, neuromuscular, and molecular findings of the first French Canadian patient with MNGIE caused by a novel homozygous invariant splicing site (IVS5 +1 G > A) mutation of the TYMP gene. (C) 2009 Elsevier B.V. All rights reserved.
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