Stem Cell Res 2021 Apr 8;53:102333. Epub 2021 Apr 8.
Neuroscience Area, Biodonostia Research Institute, San Sebastian, Spain; CIBERNED, Instituto de Salud Carlos III, Madrid, Spain; Department of Neuroscience, University of the Basque Country, San Sebastian, Spain; Department of Neurology, Hospital Universitario Donostia, San Sebastian, Spain. Electronic address:
Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain 3 gene, with over 500 mutations reported to date. However, the molecular events that lead to muscle wasting are not clear, nor the reasons for the great clinical variability among patients, and this has so far hindered the development of effective therapies. Read More