Open AccessHereditary muscular dystrophies
Author(s) -
V. B. Doronin,
О. Б. Доронина
Publication year - 2009
Publication title -
bûlletenʹ sibirskoj mediciny
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.135
H-Index - 3
eISSN - 1819-3684
pISSN - 1682-0363
DOI - 10.20538/1682-0363-2009-3(2)-72-77
Subject(s) - genetic diagnosis , muscular dystrophy , medicine , hereditary diseases , clinical diagnosis , pathology , physical medicine and rehabilitation , bioinformatics , pediatrics , genetics , gene , biology , disease
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.