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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Vydáno v:	Nervno-myshechnye bolezni Ročník 5; číslo 2; s. 44 - 54
Hlavní autoři:	Kurbatov, S. A., Fedotov, V. P., Tsygankova, P. G., Zakharova, E. Y., Lipovka, S. N.
Médium:	Journal Article
Jazyk:	angličtina ruština
Vydáno:	ABV-press 29.06.2015
Témata:	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
On-line přístup:	Získat plný text
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Shrnutí:	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