Congenital muscular dystrophies

We describe the phenotype, genotype and muscle MRI (WBMRI) in a series of patients with Collagen VI-Related Myopathy (COLVI-RM). A retrospective study of patients with a genetic diagnosis of Collagen-VI-RM, IRB-approved. Demographic data and patients ’ characteristics were obtained from medical records.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: B. Suarez, J. Jofre, M. Martinez-Jalilie, M. Diemer, X. Ortega, T. Vial, S. Lillo, M. Haro, G. Calcagno, M. Palomino, C. Hervias, C. Castiglioni Source Type: research