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    Neuromuscul Disord. 2009 Feb;19(2):151-4. Epub 2008 Dec 3.

    Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

    Taanman JW, Daras M, Albrecht J, Davie CA, Mallam EA, Muddle JR, Weatherall M, Warner TT, Schapira AH, Ginsberg L.

    Source

    Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London, United Kingdom. j.taanman@medsch.ucl.ac.uk

    Abstract

    Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder caused by loss-of-function mutations in the thymidine phosphorylase gene (TYMP). We report here a patient compound heterozygous for two TYMP mutations: a novel g.4009G>A transition affecting the consensus splice donor site of intron 9, and a previously reported g.675G>C splice site mutation. The novel mutation causes exon 9 skipping but leaves the reading frame intact; however, TYMP protein was not detected by immunoblot analysis, suggesting that neither mutant allele is expressed as protein. The patient's fibroblasts showed gradual loss of the mitochondrial DNA-encoded subunit I of cytochrome-c oxidase, suggesting a progressive mitochondrial DNA defect in culture.

    PMID:
    19056268
    [PubMed - indexed for MEDLINE]

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