Table I. Overview of patients studied in this work.
ID | Gender | Age at onset [years] | Age at biopsy [years] | Muscle | FLNC mutation (domain) |
---|---|---|---|---|---|
1 | Female | 50 | 52 | Medial gastrocnemius | Dimerization domain (d24Δ1) |
2 | Male | 39 | 42 | Vastus lateralis | Dimerization domain (d24Δ1) |
3 | Female | 42 | 46 | Vastus lateralis | Dimerization domain (d24Δ1) |
4 | Female | 36 | 46 | Medial gastrocnemius | Ig-like domain 7 |
5 | Male | 39 | 49 | Vastus lateralis | Ig-like domain 7 |
6 | Female | 37 | 41 | Medial gastrocnemius | Dimerization domain (d24Δ2) |