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Epidemiological, clinical and genetic characteristics of patients with hereditary motor and sensory neuropathy 1X according to regional registry data
https://doi.org/10.25557/2073-7998.2025.11.103-105
Abstract
The article presents updated data on the epidemiology, clinical and genetic characteristics of patients with hereditary motor-sensory neuropathy 1X, obtained as a result of continued work with the regional genetic registry.
Supporting agencies: This research received no external funding
About the Authors
E. V. Saifullina
Bashkir State Medical University; Republican Center of Medical Genetics
Russian Federation
Russian Federation
3, Lenina st., Ufa, 450008; 74, Gafuri st., Ufa, 450076
R. V. Magzhanov
Bashkir State Medical University
Russian Federation
Russian Federation
3, Lenina st., Ufa, 450008
R. R. Enikeeva
Republican Center of Medical Genetics
Russian Federation
Russian Federation
74, Gafuri st., Ufa, 450076
D. R. Saifullina
Bashkir State Medical University
Russian Federation
Russian Federation
3, Lenina st., Ufa, 450008
I. M. Khidiyatova
Institute of Biochemistry and Genetics of Ufa Federal Research Center of RAS
Russian Federation
Russian Federation
71, Prospekt Oktyabrya, Ufa, 450054
E. K. Khusnutdinova
Bashkir State Medical University; Institute of Biochemistry and Genetics of Ufa Federal Research Center of RAS
Russian Federation
Russian Federation
3, Lenina st., Ufa, 450008; 71, Prospekt Oktyabrya, Ufa, 450054
References
1. https://www.ncbi.nlm.nih.gov/books/NBK1374/. Date of access 11.10.2025
2. Krupina N.B., Magzhanov R.V., Saifullina E.V., Kudryavtsev A.A. Avtomatizirovannyy geneticheskiy registr Nasledstvennyye motornosensornyye neyropatii (AGR NMSN): svidetel’stvo RF ob ofitsial’noy registratsii bazy dannykh № 2006620036 //№ 2005620295; zayavl. 16.11. 2005; zaregistr. 16.01.2006 [Automated genetic registry of hereditary motor and sensory neuropathies (AGR HMSN): certificate of the Russian Federation on official registration of the database No. 2006620036 // No. 2005620295; declared. 16.11. 2005; registered. 16.01.2006]. (In Russ)
3. Dadali E.L., Sharkova I.V., Fedotov V.P. et al. Kliniko-geneticheskiy analiz nasledstvennoy motorno-sensornoy neyropatii IX tipa (NMSN IX) [Clinical and genetical analysis in type IX hereditary motor and sensory neuropathy]. Meditsinskaya genetika [Medical Genetics]. 2004;3(5): 235-241. (In Russ.)
4. Saifullina EV, Magzhanov RV, Hidijatova IM, Khusnutdinova K. Kliniko-epidemiologicheskiye kharakteristiki nasledstvennoy motorno-sensornoy neyropatii IX tipa, obuslovlennoy mutatsiyey s. 259C>G (r.R87A) v gene GJB1, u patsiyentov Respubliki Bashkortostan [Clinical and epidemiological characteristics of hereditary motor-sensory neuropathy 1X caused by the mutation c. 259C> G (p. P87A) in the GJB1 gene of patients from the Republic of Bashkortostan]. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova [S.S. Korsakov Journal of Neurology and Psychiatry]. 2017;117(3):80-84. (In Russ.)
Review
For citations:
Saifullina E.V., Magzhanov R.V., Enikeeva R.R., Saifullina D.R., Khidiyatova I.M., Khusnutdinova E.K. Epidemiological, clinical and genetic characteristics of patients with hereditary motor and sensory neuropathy 1X according to regional registry data. Medical Genetics. 2025;24(11):103-105. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.103-105
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