Diagnosis:
Must confirm with Western Blotting and genetic testing
Quantitative dystrophin analysis by Western blotting: decreased dystrophin
Muscle biopsy:
Similar findings to Duchenne muscular dystrophy, but less severe.
Immunohistochemistry: variation in staining for dystrophin between and within fibres. Use antibodies against different regions of dystrophin to avoid false negatives.
Must confirm with Western Blotting and genetic testing
Quantitative dystrophin analysis by Western blotting: decreased dystrophin
Genetics:
X linked recessive