Article
Patient-specific iPSC-derived cellular models of LGMDR1.
Stem cell research - 1 May 2021
Mateos-Aierdi A J, Dehesa-Etxebeste M, Goicoechea M, Aiastui A, Richaud-Patin Y, Jiménez-Delgado S, Raya A, Naldaiz-Gastesi N, López de Munain A
Abstract excerpt
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...
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