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Clinico-Epidemiological and Molecular Genetic Study of Lumbar-Limb forms of Progressive Muscular Dystrophy in the Republic of Dagestan

Abstract

For the first time in the Republic of Dagestan (RD) a comprehensive clinical - epidemiological and molecular - genetic research of limb girdle forms of progressive muscular dystrophies (LGPMD) was conducted. LG forms of PMD: 2A type, 2B type and distal type Miyoshi were identified. The prevalence of LGPMD in RD populations was determined. LGPMD clinical polymorphism in patients living in the mountain, foothill and lowland regions of RD was studied and practical diagnostic algorithm for neurologists was made. Mutation which causes the development of LLPMD family forms was identified.

About the Authors

R. M. Magomedova
State educational institution of higher professional education "Dagestan State Medical Academy" of the Ministry of Health of the Russian Federation
Russian Federation

Magomedova Raisat Magomedovna - senior laboratory of the Department of nervous diseases, neurosurgery and medical genetics 

Republic of Dagestan, 367000, Makhachkala, st. Lenin House 1 



G. R. Mutovin
Pirogov Russian National Research Medical University
Russian Federation

Mutovin Gennadiy Romanovich – MD, Professor of the Department of neurology, neurosurgery and medical genetics 

Moscow, st.Ostrovityanova, 1 



P. G. Akhmedova
State educational institution of higher professional education "Dagestan State Medical Academy" of the Ministry of Health of the Russian Federation, the Republic of Dagestan
Russian Federation

Akhmedova Patimat Guseynovna – assistant of the Department of nervous diseases, neurosurgery and medical genetics  

367000 , Makhachkala, st. Lenin House 1 



R. A. Zinchenko
Research Center for Medical Genetics of RAMS; Pirogov Russian National Research Medical University
Russian Federation

Zinchenko Rena Abulfazovna – MD, Professor, head of Laboratory of Genetic Epidemiology Research Center for Medical Genetics of RAMS; professor Department of Molecular Genetics and Cytogenetics Pirogov Russian National Research Medical University 

115478 , Moscow, st. Moskvoreche , 1 



Z. R. Umakhanova
State educational institution of higher professional education "Dagestan State Medical Academy" of the Ministry of Health of the Russian Federation, the Republic of Dagestan
Russian Federation

Umakhanova Zoya Rashidovna – CMS, docent, head of the Department of neurology 

367000 , Makhachkala, st. Lenin House 1 



References

1. Illarioshkin S.N. DNA diagnosis and genetic counseling in neurology / S.N. Illarioshkin, I.A. Ivanova-Smolenskaya, E.D. Markova. - M., 2002. - 591 p.

2. Clinical and genetic characteristics of the lap - limb muscular dystrophy type 2A / E.L. Dadali, O.A. Shchagina, O.P. Ryzhkov [et al.] // Journal of Neurology and Psychiatry. S.S.Korsakov. - 2010. - №4. - Р.79 -83.

3. Clinical, molecular and genetic diagnostic algorithms of hereditary progressive muscular dystrophy / O.P. Ryzhkova, E.L. Dadali, O.A. Schagina // Medical genetics. – 2011. – № 2. – Р. 17-23.

4. Umahanova Z.R. Complex genetic and clinical study of hereditary neuromuscular diseases in populations of Dagestan: Dis... Dr of medical sciences. - М., 2000. - 190 p.


Review

For citations:


Magomedova R.M., Mutovin G.R., Akhmedova P.G., Zinchenko R.A., Umakhanova Z.R. Clinico-Epidemiological and Molecular Genetic Study of Lumbar-Limb forms of Progressive Muscular Dystrophy in the Republic of Dagestan. Yakut Medical Journal. 2014;(2):23-24.

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ISSN 1813-1905 (Print)
ISSN 2312-1017 (Online)