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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Summary: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 depletion of mtDNA. We present a case of MNGIE with a novel mutation in the position c.1001T>G of TYMP gene, hypergonadotropic hypogonadism, decrement of compound muscle action potential following repetitive nerve stimulation on EMG which was not previously described in literature and differential diagnoses MNGIE with other conditions.
ISSN:2222-8721
2413-0443
DOI:10.17650/2222-8721-2015-5-2-44-54