Genetic defects are common in myopathies with tubular aggregates

OBJECTIVE: A group of genes have been reported to be associated with myopathies with tubular aggregates (TAs). Many cases with TAs still lack of genetic clarification. This study aims to explore the genetic background of cases with TAs in order to improve our knowledge of the pathogenesis of these r...

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Detalles Bibliográficos
Autores principales: Gang, Qiang, Bettencourt, Conceição, Brady, Stefen, Holton, Janice L., Healy, Estelle G., McConville, John, Morrison, Patrick J., Ripolone, Michela, Violano, Raffaella, Sciacco, Monica, Moggio, Maurizio, Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Wang, Zhaoxia, Yuan, Yun, Liu, Wei‐wei, Beeson, David, Hanna, Michael, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8791796/
https://www.ncbi.nlm.nih.gov/pubmed/34908252
http://dx.doi.org/10.1002/acn3.51477

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