A new allelic variant of rigid spine syndrome

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Abstract

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.

 

About the authors

E. L. Dadali

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Author for correspondence.
Email: platonova@neurology.ru
Russian Federation

V. A. Kadnikova

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

I. V. Sharkova

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

A. V. Polyakov

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

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Copyright (c) 2013 Dadali E.L., Kadnikova V.A., Sharkova I.V., Polyakov A.V.

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