Article
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
Neuromuscular disorders : NMD - 1 Nov 2012
Magri Francesca, Del Bo Roberto, 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
Abstract excerpt
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 LGMD2L and the c.191dupA mutation, and to describe the clinical, muscle biopsy, and magnetic resonance imaging findings...
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