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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...

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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

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