ssmuБюллетень сибирской медициныBulletin of Siberian Medicine1682-03631819-3684Siberian State Medical University, the Ministry of Healthcare of the Russian Federation10.20538/1682-0363-2009-3(2)-72-77ssmu-1866Research ArticleОБЗОР ЛИТЕРАТУРЫLITERATURE REVIEWНаследственные мышечные дистрофииHereditary muscular dystrophiesДоронинВ. Б.DoroninV. B.

Доронин Василий Борисович, клинический ординатор 

тел. 8-923-221-3992

carousel@bk.ruДоронинаО. Б.DoroninaO. B.

канд. мед. наук, доцент кафедры неврологии

НИИ терапии СО РАМНRussian FederationНовосибирский государственный медицинский университетRussian Federation20092806200983(2)7277Copyright © Доронин В.Б., Доронина О.Б., 20092009Доронин В.Б., Доронина О.Б.Doronin V.B., Doronina O.B.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://bulletin.ssmu.ru/jour/article/view/1866

Точная диагностика наследственных мышечных заболеваний начинает в последние годы внедряться в клиническую практику благодаря достижениям генетики. Открытие генетических дефектов, характерных для разных клинических вариантов мышечных дистрофий, дало возможность создать специфические тест-системы для верификации диагноза. Открытие генных и белковых причин нейромышечной патологии, однако, не исключает первичную клиническую диагностику, которая должна предшествовать генетическому анализу.

Precise diagnostic of hereditary muscular diseases begins to change during recent years due to genetic achievements. Genetic defects discoveries typical for different clinical variants of muscular dystrophies give opportunity for creation of specific testsystems to verify the diagnosis. Determination of gene and protein causes of neuromuscular pathology however does not exclude initial clinical diagnostic which cost less and easier to find.

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