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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500692/
https://www.ncbi.nlm.nih.gov/pubmed/22742934
http://dx.doi.org/10.1016/j.nmd.2012.05.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500692/
https://www.ncbi.nlm.nih.gov/pubmed/22742934
http://dx.doi.org/10.1016/j.nmd.2012.05.001

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