ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

BACKGROUND: Limb Girdle Muscular Dystrophy (LGMD), caused by defective α-dystroglycan (α-DG) glycosylation, was recently associated with mutations in Isoprenoid synthase domain-containing (ISPD) and GDP-mannose pyrophosphorylase B (GMPPB) genes. The frequency of ISPD and GMPPB gene mutations in the...

Descripción completa

Detalles Bibliográficos
Autores principales: Magri, Francesca, Colombo, Irene, Del Bo, Roberto, Previtali, Stefano, Brusa, Roberta, Ciscato, Patrizia, Scarlato, Marina, Ronchi, Dario, D’Angelo, Maria Grazia, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582941/
https://www.ncbi.nlm.nih.gov/pubmed/26404900
http://dx.doi.org/10.1186/s12883-015-0428-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582941/
https://www.ncbi.nlm.nih.gov/pubmed/26404900
http://dx.doi.org/10.1186/s12883-015-0428-8

Ejemplares similares