r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2019-24-5-4-13r-n-j-29Research ArticleЛЕКЦИИ, ОБЗОРЫLECTURES/REVIEWSНаследственные нервно-мышечные болезни. Часть 1. Мышечные дистрофии: дистрофинопатии, эмеринопатии и лице-лопаточно-плечевая формыHereditary neuromuscular diseases. Part 1. Muscular dystrophies: dystrophinopathy emerinopathy and facio-scapulo-humeral formsКазаковВ. М.KazakovV. М.

Санкт-Петербург.

St. Petersburg.

valerykazakov@mail.ruhttps://orcid.org/0000-0002-5884-3110СкоромецА. А.SkorometsA. A.

Санкт-Петербург.

St. Petersburg.

askoromets@gmail.comРуденкоД. И.RudenkoD. I.

Санкт-Петербург.

St. Petersburg.

dmrud_H2@mail.ruСтучевскаяТ. Р.StuchevskayaT. R.

Санкт-Петербург.

St. Petersburg.

timamd@gmail.ruКолынинВ. О.KolyninV. O.

Санкт-Петербург.

St. Petersburg.

vkolynin@mail.ruКафедра неврологии Первого Санкт-Петербургского государственного медицинского университета им. акад. И.П. Павлова; Отделение нервно-мышечных болезней ГМПб 2РоссияDepartment of Neurology First Pavlov State Medical University; Department of neuromuscular diseases, City hospital 2Russian FederationКафедра неврологии Первого Санкт-Петербургского государственного медицинского университета им. акад. И.П. ПавловаРоссияDepartment of Neurology First Pavlov State Medical UniversityRussian Federation201914012020245413Copyright © Казаков В.М., Скоромец А.А., Руденко Д.И., Стучевская Т.Р., Колынин В.О., 20202020Казаков В.М., Скоромец А.А., Руденко Д.И., Стучевская Т.Р., Колынин В.О.Kazakov V.М., Skoromets A.A., Rudenko D.I., Stuchevskaya T.R., Kolynin V.O.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/29

Представлены современная клинико-генетическая классификация, клинико-генетические особенности основных типов мышечных дистрофий (дистрофинопатии, эмеринопатии, лице-лопаточно-плечевая, конечностно-поясная, дистальная, окулофарингеальная, окулофарикгодисталъная), их диагностика, патогенез и методы лечения.

Written of history of the description of myopathies, modem classification of muscular dystrophies, clinical-genetic peculiarities of basic types of muscular dystrophies (dystrophinopathy, emerinopathy, facio-scapulo-limb type, limb-girdle types, distal types, ocylopharingeal and oculopharingodistal) and their diagnostic, pathogenesis and methods of treatment.

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