Table 1 Clinical and genetic presentation of patients with limb-girdle muscular dystrophy type 2I
Mutation | Gender, M:F | Age at biopsy, years | Onset of diseasea, years | Lost ambulation | Respiratory aid |
|---|---|---|---|---|---|
L276I/L276I | 9:8 | 44 ± 14 | 19 ± 11 | 3 patients | No |
L276I/Y307N | M | 35 | 7 | Yes | BiPAPb |
L276I/L202Q | F | 40 | 4 | Yes | Respirator |
L276I/A157P | F | 16 | 3 | No | No |
L276I/P462S | F | 31 | 12 | Yes | No |
L276I/Y307N | F | 13 | 3 | Yes | BiPAP |