BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age

Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk, causing the disintegration of myofibrils. They may be caused by mutations in different genes, among these, the BAG3 gene (Bcl-2 associed-athanogene-3) encodes a multidomain protein t...

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Detalles Bibliográficos
Autores principales: Scarpini, Gaia, Valentino, Maria Lucia, Giannotta, Melania, Ragni, Luca, Torella, Annalaura, Columbaro, Marta, Nigro, Vincenzo, Pini, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744013/
https://www.ncbi.nlm.nih.gov/pubmed/35047758
http://dx.doi.org/10.36185/2532-1900-061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744013/
https://www.ncbi.nlm.nih.gov/pubmed/35047758
http://dx.doi.org/10.36185/2532-1900-061

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