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Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights

Abstract Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder caused by variants in the TYMP gene, which encodes thymidine phosphorylase (TP). It is characterized by multisystem involvement, with prominent gastrointestinal, neurological, and sy...

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Principais autores: Xuebi Xu, Junhui Xia, Fei Xu, Mingshan Wang, Lihong Yang, Xiaoli Chen
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-08-01
Serier:Orphanet Journal of Rare Diseases
Fag:
MNGIE
TYMP
TP
ACMG
Compound heterozygous
Online adgang:https://doi.org/10.1186/s13023-025-03962-3
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