Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press11710.17650/2222-8721-2015-5-2-44-54CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРDifferential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. First clinical description in RussiaДифференциальная диагностика митохондриальной нейрогастроинтестинальной энцефаломиопатии. Первое клиническое описание в РоссииKurbatovS. A.КурбатовС. А.
Russian Federation

Lenin Square 5a, 394018, Voronezh

Moskovsky Prospect 11, 394026, Voronezh

 

394018, Воронеж, пл. Ленина, 5А

394026, Воронеж, Московский проспект, 11

kurbatov80@list.ruFedotovV. P.ФедотовВ. П.
Russian Federation

Moskovsky Prospect 151, 394066, Voronezh

394066, Московский проспект, 151

kurbatov80@list.ruTsygankovaP. G.ЦыганковаП. Г.
Russian Federation

Moskvorech`e 1, 115478, Moscow

115478, Москва, ул. Москворечье, 1

kurbatov80@list.ruZakharovaE. Y.ЗахароваЕ. Ю.
Russian Federation

Moskvorech`e 1, 115478, Moscow

115478, Москва, ул. Москворечье, 1

kurbatov80@list.ruLipovkaS. N.ЛиповкаС. Н.
Russian Federation

Lenin Square 5a, 394018, Voronezh

394018, Воронеж, пл. Ленина, 5А

kurbatov80@list.ruRegional Medical Diagnostic Centre LLT “Diagnostika-plus”АУЗ ВО «Воронежский областной клинический консультативно-диагностический центр» OOO ДЦ «Диагностика плюс», ВоронежRegional Clinical HospitalБУЗ ВО «Воронежская областная клиническая больница № 1»Russian Research Center for Medical Genetics RAMNSФГБНУ «Медико-генетический научный центр»Regional Medical Diagnostic CentreАУЗ ВО «Воронежский областной клинический консультативно-диагностический центр»290620155244542906201529062015Copyright ©; 2015, Kurbatov S.A., Fedotov V.P., Tsygankova P.G., Zakharova E.Y., Lipovka S.N.Copyright ©; 2015, Курбатов С.А., Федотов В.П., Цыганкова П.Г., Захарова Е.Ю., Липовка С.Н.2015Kurbatov S.A., Fedotov V.P., Tsygankova P.G., Zakharova E.Y., Lipovka S.N.Курбатов С.А., Федотов В.П., Цыганкова П.Г., Захарова Е.Ю., Липовка С.Н.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/117

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.

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