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Table 1 Distribution of mutations in DMD/BMD patients

From: A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China

  DMD patients BMD patients
Distribution of mutation No. of case % of case No. of case % of case
Deletion 127 65.5% 26 74.3%
Duplication 19 9.8% 3 8.6%
Deletion and duplication 1 0.5% 0 0
Others* 46 23.7% 5 14.3%
No mutation found** 1 0.5% 1 2.8%
  194 100% 35 100%
  1. *Point mutation, small insertion/deletion mutations and splice site mutations are listed in Table 2. **Diagnosis was made on the basis of absence of dystrophin expression and clinical manifestation.