Francesca Magri, Roberta Brusa, Luca Bello, Lorenzo Peverelli, Roberto Del Bo, Alessandra Govoni, Claudia Cinnante, Irene Colombo, Francesco Fortunato, Roberto Tironi, Stefania Corti, Nadia Grimoldi, Monica Sciacco, Nereo Bresolin, Elena Pegoraro, Maurizio Moggio, Giacomo Pietro Comi
Mutations in LAMA2 gene, encoding merosin, are generally responsible of a severe congenital-onset muscular dystrophy (CMD type 1A) characterized by severe weakness, merosin absence at muscle analysis and white matter alterations at brain Magnetic Resonance Imaging (MRI). Recently, LAMA2 mutations have been acknowledged as responsible of LGMD R23, despite only few cases with slowly progressive adult-onset and partial merosin deficiency have been reported. We describe 5 independent Italian subjects presenting with progressive limb girdle muscular weakness, brain white matter abnormalities, merosin deficiency and LAMA2 gene mutations...
June 2020: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology