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

Table 3 Genetically confirmed dystrophinopathies

Case number	Dystrophinopathy type	Gene	Mutation type	Position and/or sequence variation
1	DMD	DMD	Deletion	Exons 44–55
2	DMD	DMD	Deletion	Exons 18–28
3	DMD	DMD	Duplication	Exons 18–48
4	DMD	DMD	Deletion	Exons 49 y 50
5	DMD	DMD	Deletion	Exons 45–53
6	DMD	DMD	Deletion	Exons 45–49
7	DMD	DMD	Duplication	Exon 3
8	DMD	DMD	SNV	c.353G > A, p.Trp118^a
9	DMD	DMD	Deletion	Exon 43
10	DMD	DMD	Deletion	Exons 44–50
11^a	DMD
12^a	DMD
13^b	DMD
14	BMD	DMD	Deletion	Exon 52
15	BMD	DMD	Deletion	Intron 49
16	BMD	DMD	Deletion	Exons 3–7
17	BMD	DMD	Deletion	Exons 45–55
18	BMD	DMD	Duplication	Exon 2
19^b	BMD
20^b	BMD

^aNo mutation identified. Negative deletion/duplication study. Positive familial segregation
^bEvidence of genetic confirmation in the clinical record; no access to the identified mutation

ISSN: 1750-1172