Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous conditions. We investigated a large family with autosomal dominant transmission pattern, previously classified as LGMD1F and mapped to chromosome 7q32. Affected members are characterized by muscle weakness affecting...

Descripción completa

Detalles Bibliográficos
Autores principales: Torella, Annalaura, Fanin, Marina, Mutarelli, Margherita, Peterle, Enrico, Del Vecchio Blanco, Francesca, Rispoli, Rossella, Savarese, Marco, Garofalo, Arcomaria, Piluso, Giulio, Morandi, Lucia, Ricci, Giulia, Siciliano, Gabriele, Angelini, Corrado, Nigro, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646821/
https://www.ncbi.nlm.nih.gov/pubmed/23667635
http://dx.doi.org/10.1371/journal.pone.0063536

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646821/
https://www.ncbi.nlm.nih.gov/pubmed/23667635
http://dx.doi.org/10.1371/journal.pone.0063536

Ejemplares similares