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    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 by 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

    Published 2022-12-01

    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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