Mitochondrial Complex V (ATP-synthase) Deficiency Nuclear Type 2, Caused by Mutation in the TMEM70 Gene: the First Case in Russia

Mitochondrial Complex V (ATP-synthase) Deficiency Nuclear Type 2, Caused by Mutation in the TMEM70 Gene: the First Case in Russia

Mitochondrial respiratory chain complex V deficiency, type 2 is a rare hereditary disease developing due to mutations in TMEM70 (transmembrane protein 70) gene. Using massively parallel sequencing in patient with phenotype features, noncompaction of the left ventricular myocardium, and congenital he...

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Bibliographic Details
Main Authors: Natal’ya V. Zhurkova, Nato D. Vashakmadze, Kirill V. Savost’anov, Aleksandr A. Pushkov, Artem M. Nesterov, Leyla S. Namazova-Baranova
Format: Article
Language:Russian
Published: Union of pediatricians of Russia 2018-05-01
Series:Педиатрическая фармакология
Subjects:
mitochondrial respiratory chain diseases
atp-6 synthetase
complex v mitochondrial respiratory chain
deficiency
noncompaction of the left ventricular myocardium
congenital heart disease
tmem70
Online Access:https://www.pedpharma.ru/jour/article/view/1620
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Summary:Mitochondrial respiratory chain complex V deficiency, type 2 is a rare hereditary disease developing due to mutations in TMEM70 (transmembrane protein 70) gene. Using massively parallel sequencing in patient with phenotype features, noncompaction of the left ventricular myocardium, and congenital heart disorder, we revealed mutations c.317-2A>G and c.578_579del in TMEM70 gene both in a heterozygous state. The mutations were confirmed by bi-directional automatic sequencing.
ISSN:1727-5776
2500-3089

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