Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects

Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects

This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the period 2000–2020 was 195 954, and the prevalence of spinal muscular atrophy 5q among newborns was 1:24 494, or 4.08 per 100.000. That correspo...

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Bibliographic Details
Main Authors: I. S. Tebieva, A. F. Murtazina, S. B. Artemieva, Yu. V. Gabisova, R. A. Zinchenko
Format: Article
Language:Russian
Published: ABV-press 2022-06-01
Series:Нервно-мышечные болезни
Subjects:
spinal muscular atrophy
antisense oligonucleotide therapy
gene replacement therapy
Online Access:https://nmb.abvpress.ru/jour/article/view/486
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