Characteristics of genetic changes in the <i>SMN1</i> gene in spinal muscular atrophy 5q
Background. Proximal spinal muscular atrophy 5q (5q‑SMA) is one of the most common neuromuscular diseases, which is caused by mutations of the SMN1 gene. Despite the fact that most studies consider SMN1 “deletion” as the most common cause of 5q‑SMA, gene loss is in fact associated with both classica...
| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Russian |
| Publicado em: |
ABV-press
2022-09-01
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| Colecção: | Нервно-мышечные болезни |
| Assuntos: | |
| Acesso em linha: | https://nmb.abvpress.ru/jour/article/view/498 |