A new mutation in the TYMP-gene: clinical and morphological characteristics of a patient with MNGIE syndrome

A new mutation in the TYMP-gene: clinical and morphological characteristics of a patient with MNGIE syndrome

Mitochondrial neurogastrointestinal encephalomyopathy is an extremely rare (1–9:1 000 000, Orphanet, 2021) multisystem genetic disease caused by mutations in the TYMP gene encoding the enzyme thymidine phosphorylase.The article presents the data of a thirteen‑year survey on 40‑year‑old patient D. wi...

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Detalhes bibliográficos
Principais autores: S. N. Bardakov, I. S. Limaev, A. M. Emelin, V. Nikitins, E. V. Presnyakov, S. A. Kurbatov, P. G. Tsygankova, V. A. Tsargush, I. A. Chekmareva, E. V. Kolmakova, N. V. Bakulina, R. V. Deev
Formato: Artigo
Idioma:Russian
Publicado em: ABV-press 2022-12-01
coleção:Нервно-мышечные болезни
Assuntos:
mitochondrial neurogastrointestinal encephalomyopathy
mngie
tymp
telocytes
cd117
s100
Acesso em linha:https://nmb.abvpress.ru/jour/article/view/509

Internet

https://nmb.abvpress.ru/jour/article/view/509

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