Hereditary nervous disorders in Mari El

G. E. Rudenskaya; Руденская Г. Е.; S. A. Klyushnikov; Клюшников С. А.; I. S. Moshkina; Мошкина И. С.

doi:10.17816/kazmj104503

Hereditary nervous disorders in Mari El

Authors: Rudenskaya G.E.¹^,2, Klyushnikov S.A.¹^,2, Moshkina I.S.¹^,2
Affiliations:
1. Laboratory of Population Genetics, Institute of Clinical Genetics, Medical Genetics Research Center, Russian Academy of Medical Sciences
2. Yoshkar-Ola Branch, Kazan State Medical University
Issue: Vol 77, No 4 (1996)
Pages: 245-249
Section: Theoretical and clinical medicine
URL: https://journals.rcsi.science/kazanmedj/article/view/104503
DOI: https://doi.org/10.17816/kazmj104503
ID: 104503

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Abstract

The population genetic study of hereditary nervous disorders is performed in Mari El (6 regions, total population 224100, including 144100 ethnic Maries and 66100 ethnic Russians). Overall hereditary nervous disorders prevalence is 25,44 per 100000, including 21,86 in Maries and 32,52 in Russians, the load of X-linked and autosomal recessive disorders being heavier than that of autosomal dominant disorders. The hereditary nervous disorders spectrum includes 24 nosologies neuromuscular disorders predominantly. Clinical and genetic characteristics of some cases are presented.