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Article

Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Molecular medicine reports - 1 Jul 2013

Suh Bum Chun, Jeong Ha-Neul, Yoon Byung Suk, Park Ji Hoon, Kim Hye Jin, Park Sun Wha, Hwang Jung Hee, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive multiorgan disease, frequently associated with mutations in the thymidine phosphorylase (TYMP) gene. TYMP encodes thymidine phosphorylase (TP), which has an essential role in the nucleotide salvage pathway for mitochondrial DNA (mtDNA) replication. This study reports an MNGIE patient with novel compound heterozygous missense...

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Source

Identifiers

PMID: 23685548
DOI: 10.3892/mmr.2013.1479

Genes

TYMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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