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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...
Autores principales: | Murtazina, Aysylu, Demina, Nina, Chausova, Polina, Shchagina, Olga, Borovikov, Artem, Dadali, Elena |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |
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