Skip to main content

Table 3 Genetically confirmed dystrophinopathies

From: Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

Case numberDystrophinopathy typeGeneMutation typePosition and/or sequence variation
1DMDDMDDeletionExons 44–55
2DMDDMDDeletionExons 18–28
3DMDDMDDuplicationExons 18–48
4DMDDMDDeletionExons 49 y 50
5DMDDMDDeletionExons 45–53
6DMDDMDDeletionExons 45–49
7DMDDMDDuplicationExon 3
8DMDDMDSNVc.353G > A, p.Trp118a
9DMDDMDDeletionExon 43
10DMDDMDDeletionExons 44–50
11aDMD   
12aDMD   
13bDMD   
14BMDDMDDeletionExon 52
15BMDDMDDeletionIntron 49
16BMDDMDDeletionExons 3–7
17BMDDMDDeletionExons 45–55
18BMDDMDDuplicationExon 2
19bBMD   
20bBMD   
  1. aNo mutation identified. Negative deletion/duplication study. Positive familial segregation
  2. bEvidence of genetic confirmation in the clinical record; no access to the identified mutation