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The First Russian Patient with Native American Myopathy

Congenital myopathy associated with pathogenic variants in the STAC3 gene has long been considered native American myopathy (NAM). In 2017, the first case of a non-Amerindian patient with this myopathy was described. Here, we report the first Russian patient with NAM. The patient is a 17-year-old fe...

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Detalles Bibliográficos
Autores principales: Murtazina, Aysylu, Demina, Nina, Chausova, Polina, Shchagina, Olga, Borovikov, Artem, Dadali, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872138/
https://www.ncbi.nlm.nih.gov/pubmed/35205385
http://dx.doi.org/10.3390/genes13020341