Open access
Sep 2026
Mitochondrial defects in the cAMP-PKA-DRP1 pathway in a Crppa deletion model of dystroglycanopathy
ABSTRACT Dystroglycanopathies (DGPs) are autosomal recessive muscular dystrophies caused by abnormal α-dystroglycan glycosylation. CRPPA is one causative gene, with deletion of exons 6-9 identified as a founder variant in Chinese patients. Our previous study revealed mitochondrial abnormalities in patient muscle biopsi...
Ji-Hang Luo, Yi-Dan Liu, D. Song et al.
· Disease Models & Mechanisms · 0 citations