Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy

Myofibrillar myopathies (MFMs) are genetically heterogeneous dystrophies characterized by the disintegration of Z-disks and myofibrils and are associated with mutations in genes encoding Z-disk or Z-disk-related proteins. The c.626 C > T (p.P209L) mutation in the BAG3 gene has been described as c...

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Detalles Bibliográficos
Autores principales: D’Avila, Francesca, Meregalli, Mirella, Lupoli, Sara, Barcella, Matteo, Orro, Alessandro, De Santis, Francesca, Sitzia, Clementina, Farini, Andrea, D’Ursi, Pasqualina, Erratico, Silvia, Cristofani, Riccardo, Milanesi, Luciano, Braga, Daniele, Cusi, Daniele, Poletti, Angelo, Barlassina, Cristina, Torrente, Yvan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010835/
https://www.ncbi.nlm.nih.gov/pubmed/27443559
http://dx.doi.org/10.1007/s10974-016-9451-7

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