Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Limb-girdle muscular dystrophy (LGMD) 2L, caused by mutations in the anoctamin 5 (ANO5) gene, is the third most common LGMD in Northern and Central Europe, where the c.191dupA mutation causes the majority of cases. We evaluated data from 228 Italian LGMD patients to determine the prevalence of LGMD2...

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主要な著者: Magri, Francesca, Bo, Roberto Del, D’Angelo, Maria Grazia, Sciacco, Monica, Gandossini, Sandra, Govoni, Alessandra, Napoli, Laura, Ciscato, Patrizia, Fortunato, Francesco, Brighina, Erika, Bonato, Sara, Bordoni, Andreina, Lucchini, Valeria, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo Pietro
フォーマット: Artigo
言語:Inglês
出版事項: Pergamon Press 2012
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3500692/
https://ncbi.nlm.nih.gov/pubmed/22742934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.05.001
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