What are the Diagnostic Implications of Dystrophin Analysis?
Analyzing dystrophin expression is critical for diagnosing muscular dystrophies. Muscle biopsies from patients suspected of having DMD or BMD are examined for the presence and distribution of dystrophin using IHC or Western blotting. A complete absence of dystrophin typically indicates DMD, while reduced or abnormal dystrophin levels suggest BMD. Genetic testing can complement these findings, providing a comprehensive diagnosis.
