Анналы клинической и экспериментальной неврологии (Feb 2017)
A new allelic variant of rigid spine syndrome
Abstract
Description of clinical features of the disease in a 4-year-old boywith rigid spine syndrome is presented. Molecular genetic analysisrevealed in this patient an unknown homozygous mutation988delC in the SEPN1 gene (coding for selenoprotein N). Incontrast to previously described selenoprotein-associated casesof the disease, our patient exhibited early involvement in thepathological process of muscles of the shoulder and the pelvicgirdles.
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