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

Published in:	Nervno-myshechnye bolezni Vol. 5; no. 2; pp. 44 - 54
Main Authors:	Kurbatov, S. A., Fedotov, V. P., Tsygankova, P. G., Zakharova, E. Y., Lipovka, S. N.
Format:	Journal Article
Language:	English Russian
Published:	ABV-press 29.06.2015
Subjects:	cachexia decrement of the compound muscle action potential gene encoding thymidine phosphorylase mtdna leukoencephalopathy mitochondrial dna mitochondrial dna depletion syndrome 1 mitochondrial neurogastrointestinal encephalomyopathy syndrome polyn
ISSN:	2222-8721, 2413-0443
Online Access:	Get full text
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