A new allelic variant of rigid spine syndrome
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-associa...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Research Center of Neurology
2017-02-01
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| Series: | Анналы клинической и экспериментальной неврологии |
| Subjects: | |
| Online Access: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/235/73 |