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Article

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

Neuromuscular disorders : NMD - 1 Feb 2009

Taanman Jan-Willem, Daras Mariza, Albrecht Juliane, Davie Charles A, Mallam Elizabeth A, Muddle John R, Weatherall Mark, Warner Thomas T, Schapira Anthony H V, Ginsberg Lionel

Abstract excerpt

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...

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Source

Identifiers

PMID: 19056268
DOI: 10.1016/j.nmd.2008.11.002

Genes

TYMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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