Description of clinical features of the disease in a 4-year-old boy with rigid spine syndrome is presented. Molecular genetic analysis revealed in this patient an unknown homozygous mutation 988delC in the SEPN1 gene (coding for selenoprotein N). In contrast to previously described selenoprotein-associated cases of the disease, our patient exhibited early involvement in the pathological process of muscles of the shoulder and the pelvic girdles.
A new allelic variant of rigid spine syndrome
- 作者: Dadali E.L.1, Kadnikova V.A.2, Sharkova I.V.2, Polyakov A.V.2
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隶属关系:
- Research Center for Medical Genetics
- Research Centre for Medical Genetics
- 期: 卷 7, 编号 2 (2013)
- 页面: 51-54
- 栏目: Clinical analysis
- URL: https://journals.rcsi.science/2075-5473/article/view/124591
- DOI: https://doi.org/10.17816/psaic235
- ID: 124591
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作者简介
Elena Dadali
Research Center for Medical Genetics
Email: genclinic@yandex.ru
俄罗斯联邦, Moscow
Varvara Kadnikova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
俄罗斯联邦, Moscow
Inna Sharkova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
ORCID iD: 0000-0002-5819-4835
Cand. Sci. (Med.), leading researcher, Scientific advisory department
俄罗斯联邦, 115522, Russia, Moscow, Moskvorechie str., 1.Alexander Polyakov
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
参考
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