Limb-girdle muscular dystrophy type R2 (LGMDR2) is a genetic disorder characterized by progressive skeletal muscle weakness and degeneration. It is caused by mutations in the DYSF gene, which prevent dysferlin expression. Dysferlin protein is essential for muscle cell membrane repair. Gene therapy using adeno-associate...
Nikki M. McCormack, Stephanie Lee-Diaz, Theodore R. Reyes et al.· Science Translational Medici...· 0 citations
Abstract Calcium calmodulin kinase II (CaMKII) signaling is activated by muscle use and drives gene expression that promotes slow oxidative muscle phenotype. Previously, we showed that the calpain 3 knockout (C3KO) mouse model of limb girdle muscular dystrophy R1 (LGMDR1) exhibits impaired slow-oxidative gene expressio...
I. Kramerova, Frieda Anastopulos, Diana Becerra et al.· Human Molecular Genetics· 0 citations
Recent advances in DMD management represent a paradigm shift in DMD management and offer renewed hope for improving survival and quality of life for affected individuals, and future directions in therapeutic development are considered.
Antoine Muchir, A. Musarò, Jeffrey S. Chamberlain· Skeletal Muscle· 0 citations
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