Mitochondrial disorders in congenital myopathies

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 mitoch...

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Bibliographic Details
Main Authors: D. A. Kharlamov, T. I. Baranich, V. V. Glinkina, A. V. Brydun
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2016-03-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/253
Description
Summary: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.
ISSN:1027-4065
2500-2228