A dysfunctional desmin mutation in a patient with severe generalized myopathy

• المؤلفون الرئيسيون: Munoz-Marmol, Ana M., Coulombe, Pierre A., Mate, José L., Navas-Palacios, José J., Strasser, Geraldine, Isamat, Marcos, Yang, Yanmin, Roca, Xavier, Vela, Elena, Coll, Jaume, Fernández-Figueras, María Teresa, Ariza, Aurelio, Fuchs, Elaine
• مؤلفون آخرون: School of Biological Sciences
• التنسيق: مقال
• اللغة: English
• منشور في: 2012
• الموضوعات: DRNTU::Science::Biological sciences
• الوصول للمادة أونلاين: https://hdl.handle.net/10356/79975; http://hdl.handle.net/10220/8864
• المؤسسة: Nanyang Technological University

Mice lacking desmin produce muscle fibers with Z disks and normal sarcomeric organization. However, the muscles are mechanically fragile and degenerate upon repeated contractions. We report here a human patient with severe generalized myopathy and aberrant intrasarcoplasmic accumulation of desmin in...