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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...
Autores principales: | Scarpini, Gaia, Valentino, Maria Lucia, Giannotta, Melania, Ragni, Luca, Torella, Annalaura, Columbaro, Marta, Nigro, Vincenzo, Pini, Antonella |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pacini Editore Srl
2021
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Materias: | |
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 |
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