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

• Main Authors: Natal'ya V. Zhurkova (Author), Nato D. Vashakmadze (Author), Kirill V. Savost'anov (Author), Aleksandr A. Pushkov (Author), Artem M. Nesterov (Author), Leyla S. Namazova-Baranova (Author)
• Format: Book
• Published: Union of pediatricians of Russia, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...