Evaluation of clinical and genetic factors associated with delta-sarcoglycan muscular dystrophy

Takeaway

  • Residual protein expression in delta-sarcoglycan muscular dystrophy is associated with later disease onset and later loss of ambulation when compared with absent protein expression.

Why this matters

  • Risk factors for sarcoglycanopathies have not been well studied, beyond limited observations of protein expression in muscle biopsy. Results from this study expand knowledge of the clinical course of patients with mutations in the delta-sarcoglycan (SGCD) gene and have important implications for clinical trial designs for sarcoglycanopathy treatments.