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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.