[HTML][HTML] Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
F Magri, R Del Bo, MG D'Angelo, M Sciacco… - Neuromuscular …, 2012 - Elsevier
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 in these
patients. Forty-three patients who lacked molecular diagnosis were studied for 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 in these
patients. Forty-three patients who lacked molecular diagnosis were studied for ANO5 …