Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

OBJECTIVE: Duchenne muscular dystrophy (DMD) is characterised by progressive muscle weakness. It has recently been reported that single nucleotide polymorphisms (SNPs) located in the SPP1 and LTBP4 loci can account for some of the inter-individual variability observed in the clinical disease course....

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Detalles Bibliográficos
Autores principales: van den Bergen, Janneke C, Hiller, Monika, Böhringer, Stefan, Vijfhuizen, Linda, Ginjaar, Hendrika B, Chaouch, Amina, Bushby, Kate, Straub, Volker, Scoto, Mariacristina, Cirak, Sebahattin, Humbertclaude, Véronique, Claustres, Mireille, Scotton, Chiara, Passarelli, Chiara, Lochmüller, Hanns, Muntoni, Francesco, Tuffery-Giraud, Sylvie, Ferlini, Alessandra, Aartsma-Rus, Annemieke M, Verschuuren, Jan J G M, 't Hoen, Peter AC, Spitali, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2015
Materias:
Neuromuscular
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602257/
https://www.ncbi.nlm.nih.gov/pubmed/25476005
http://dx.doi.org/10.1136/jnnp-2014-308409

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