A new allelic variant of rigid spine syndrome
- 作者: Dadali E.1, Kadnikova V.1, Sharkova I.1, Polyakov A.1
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隶属关系:
- Research Centre for Medical Genetics
- 期: 卷 42, 编号 8 (2016)
- 页面: 850-853
- 栏目: Article
- URL: https://journals.rcsi.science/0362-1197/article/view/176984
- DOI: https://doi.org/10.1134/S0362119716080041
- ID: 176984
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详细
Description of clinical features of the disease in a four-year-old boy with rigid spine syndrome is presented. Molecular genetic analysis revealed an unknown homozygous mutation 988delC in SEPN1 gene (coding for selenoprotein N) in this patient. In contrast to previously described selenoprotein-associated cases of the disease, our patient exhibited early involvement of muscles of the shoulder and the pelvic girdles in the course of the disease.
作者简介
E. Dadali
Research Centre for Medical Genetics
编辑信件的主要联系方式.
Email: genclinic@yandex.ru
俄罗斯联邦, Moscow, 115478
V. Kadnikova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
俄罗斯联邦, Moscow, 115478
I. Sharkova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
俄罗斯联邦, Moscow, 115478
A. Polyakov
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
俄罗斯联邦, Moscow, 115478