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Author

Nikki M. McCormack

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Open access Oct 2026

FAP adipogenesis drives early spinal muscle loss in dysferlinopathy and reveals a therapeutic target

Dysferlinopathy (Limb Girdle Muscular Dystrophy R2/LGMD2B) causes progressive weakness of limb-girdle muscles. Although gait abnormalities are common, the contribution of spinal muscles to disease symptoms remains poorly understood. Using cross-sectional MRI in patients and longitudinal analyses in a dysferlinopathic m...

Young Jae Moon, Nikki M. McCormack, Thomas Diehn et al. · 0 citations
Oct 2026

Use of split intein and myotropic AAV vectors enables effective preclinical gene therapy for dysferlinopathy.

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. · 0 citations

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