Type | Gene location | Protein | Inheritance | Clinical features | Pathology/ CPK |
Dystrophinopathies | |||||
Duchenne | Xp21 | Dystrophin | XR | Onset: 2-5 years Pseudohypertrophy Diminished IQ Cardiac involvement Rapid decline Death by age 20-30 years | Severe dystrophic changes Absent dystrophin by immunohistochemistry Dystrophin <5 percent of normal amount by Western blot Striking CK elevation early on |
Intermediate "outliers" | Xp21 | Dystrophin | XR | Intermediate | Dystrophin 5-20 percent normal amount by Western blot of muscle protein |
Becker | Xp21 | Dystrophin | XR | Onset: variable More benign course | Less marked changes Reduced dystrophin by immunohistochemistry Normal or abnormal size dystrophin, amount >20 percent by Western blot |
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