ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker–Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction in the func...

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Detalles Bibliográficos
Autores principales: Cirak, Sebahattin, Foley, Aileen Reghan, Herrmann, Ralf, Willer, Tobias, Yau, Shu, Stevens, Elizabeth, Torelli, Silvia, Brodd, Lina, Kamynina, Alisa, Vondracek, Petr, Roper, Helen, Longman, Cheryl, Korinthenberg, Rudolf, Marrosu, Gianni, Nürnberg, Peter, Michele, Daniel E., Plagnol, Vincent, Hurles, Matt, Moore, Steven A., Sewry, Caroline A., Campbell, Kevin P., Voit, Thomas, Muntoni, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562076/
https://www.ncbi.nlm.nih.gov/pubmed/23288328
http://dx.doi.org/10.1093/brain/aws312

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562076/
https://www.ncbi.nlm.nih.gov/pubmed/23288328
http://dx.doi.org/10.1093/brain/aws312

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