perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”perinatology-253Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSМитохондриальные нарушения при врожденных миопатияхMitochondrial disorders in congenital myopathiesХарламовД. А.KharlamovD. A.

к.м.н., в.н.с. отделения психоневрологии и эпилептологии Научно-исследовательского института педиатрии

БараничТ. И.BaranichT. I.

асп. каф. гистологии эмбриологии и цитологии Российского национального исследовательского медицинского университета им. Н.И. Пирогова

ГлинкинаВ. В.GlinkinaV. V.

д.м.н., проф., зав. той же каф. 117997 Москва, ул. Островитянова, д. 1

БрыдунА. В.BrydunA. V.

к.м.н., ст.н.с. научно-исследовательской лаборатории общей патологии того же института 125412 Москва, ул. Талдомская, д. 2

Научно-исследовательский клинический институт педиатрии, МоскваРоссияResearch Clinical Institute of Pediatrics, MoscowRussian FederationРоссийский национальный исследовательский медицинский университет им. Н.И. Пирогова, МоскваРоссияN.I. Pirogov Russian National Research Medical University, MoscowRussian Federation2014160320165933238Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/253

В обзоре литературы приводятся данные о роли митохондриальных нарушений в патогенезе врожденных миопатий: врожденных мышечных дистрофий и врожденных структурных миопатий. Описываются изменения при врожденных мышечных дистрофиях с поражением коллагена VI типа, миодистрофии с гигантскими митохондриями, врождённых «стержневых» миопатиях, миотубулярной миопатий и др. Представлены результаты клинических и экспериментальных исследований. Описываются подходы к терапии энергетических нарушений при врожденных миопатиях.

The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

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The authors declare that there are no conflicts of interest present.