A CASE OF MITOCHONDRIAL CYTOPATHY WITH THE EARLIER UNKNOWN MUTATION OF MITOCHONDRIAL DNA, WITH HEMIDYSTONIA SYNDROME

Abstract


A case of mitochondrial cytopathy, which feature is the presence of previously described mutation of mitochondrial DNA, the phenomenon of anticipation and clinically manifested syndrome of the left-side hemidystonia. In the review section there are presented the modern concepts of etiology, pathogenesis, clinical manifestations, diagnosis and treatment of mitochondrial cytopathy.

About the authors

Tatyana A Ivanova

The first I.M. Sechenov Moscow State Medical University

Email: itamail@mail.ru
107150, Моscow, Losinoostrovskaya street, 43
Department of Nervous Diseases of the Profesional Education Institute

Mikhail G Poluektov

The first I.M. Sechenov Moscow State Medical University

107150, Моscow, Losinoostrovskaya street, 43
Department of Nervous Diseases of the Profesional Education Institute

Tamara V Philippova

The first I.M. Sechenov Moscow State Medical University

119435, Моscow, Rossolimo street, 11а, building 4
Department of Medical Genetics

Valery L Golubev

The first I.M. Sechenov Moscow State Medical University

107150, Моscow, Losinoostrovskaya street, 43
Department of Nervous Diseases of the Profesional Education Institute

References

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Copyright (c) 2015 Ivanova T.A., Poluektov M.G., Philippova T.V., Golubev V.L.

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