A new allelic variant of rigid spine syndrome
- Авторлар: Dadali E.1, Kadnikova V.1, Sharkova I.1, Polyakov A.1
-
Мекемелер:
- Research Centre for Medical Genetics
- Шығарылым: Том 42, № 8 (2016)
- Беттер: 850-853
- Бөлім: Article
- URL: https://journals.rcsi.science/0362-1197/article/view/176984
- DOI: https://doi.org/10.1134/S0362119716080041
- ID: 176984
Дәйексөз келтіру
Аннотация
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.
Негізгі сөздер
Авторлар туралы
E. Dadali
Research Centre for Medical Genetics
Хат алмасуға жауапты Автор.
Email: genclinic@yandex.ru
Ресей, Moscow, 115478
V. Kadnikova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
Ресей, Moscow, 115478
I. Sharkova
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
Ресей, Moscow, 115478
A. Polyakov
Research Centre for Medical Genetics
Email: genclinic@yandex.ru
Ресей, Moscow, 115478