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Table 2 Distribution of mutations in the registrants with DMD and BMD

From: Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

 

DMD patients

BMD patients

 

No. of case

% of cases

No. of case

% of cases

Distribution of mutation

    

Deletion

358

61.4%

83

79.0%

Duplication

79

13.6%

5

4.8%

Deletion and Duplication

1

0.2%

0

0.0%

Others *

144

24.7%

15

14.3%

No mutation found**

1

0.2%

2

1.9%

 

583

100.0%

105

100.0%

  1. * Others include nonsense mutations, small insertion/deletion mutations, deep intronic mutations, and splice site mutations.
  2. ** Their diagnosis was confirmed based on their pathological findings in muscle biopsy including a negative immunohistochemical staining against dystrophin.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172