Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. First clinical description in Russia

Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. First clinical description in Russia

Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive progressive multisystem disorder. Most of MNGIE is caused by mutations in the gene encoding thymidine phosphorylase (TYMP), locus 22q13. Mitochondrial dysfunction represents multiple deletions and de...

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Bibliographic Details
Main Authors: S. A. Kurbatov, V. P. Fedotov, P. G. Tsygankova, E. Y. Zakharova, S. N. Lipovka
Format: Article
Language:Russian
Published: ABV-press 2015-06-01
Series:Нервно-мышечные болезни
Subjects:
mitochondrial neurogastrointestinal encephalomyopathy syndrome
gene encoding thymidine phosphorylase mtdna
mitochondrial dna
decrement of the compound muscle action potential
leukoencephalopathy
cachexia
mitochondrial dna depletion syndrome 1
polyn
Online Access:https://nmb.abvpress.ru/jour/article/view/117
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