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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書誌詳細
出版年:BMC Neurol
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2015
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4582941/
https://ncbi.nlm.nih.gov/pubmed/26404900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-015-0428-8
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