Article
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jun 2020
Magri Francesca, Brusa Roberta, Bello Luca, Peverelli Lorenzo, Del Bo Roberto, Govoni Alessandra, Cinnante Claudia, Colombo Irene, Fortunato Francesco, Tironi Roberto, Corti Stefania, Grimoldi Nadia, Sciacco Monica, Bresolin Nereo, Pegoraro Elena, Moggio Maurizio, Comi Giacomo Pietro
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.