Table 2.
Demographic, genetic and clinical data of the patients whose muscle biopsies were included in the study.
| Number | Age of onset (Y) |
Muscle biopsied | Age at biopsy (Y) | Gender | Mutation | Degree of involvement |
|---|---|---|---|---|---|---|
| Control 1 | – | Quadriceps | 36 | Male | ||
| Control 2 | – | Quadriceps | 6 | Male | ||
| BMD 1 | 16 | Deltoid | 24 | Male | Deletion exon 45 to 48 | Mild |
| BMD 2 | Adolescence | Quadriceps | 60 | Male | Deletion exon 48 and 49 | Mild |
| BMD 3 | 12 | Quadriceps | 28 | Male | Deletion exon 48 and 49 | Moderate |
| BMD 4 | 5 | Quadriceps | 9 | Male | c.10454delT exon 74 | Moderate |
| BMD 5 | 20 | Tibialis Anterior | 23 | Male | Duplication exons 13 to 29 | Advanced—fibrosis |
| BMD 6 | 4 | Quadriceps | 12 | Male | Deletion exon 5 to 26 | Advanced – fibrosis |
| BMD 7 | 50 | Quadriceps | 53 | Male | Deletion exon 14 | Advanced – fat replacement |
| BMD 8 | 24 | Quadriceps | 57 | Male | Deletion exon 45 to 48 | Advanced – fat replacement |