Table 1.
Summary of Trp3X patient data in the seven affected families.
| Patients, family | Proband/relative | Geographical origin | Age at presentation | Presenting complaint | Current degree of weakness (age at exam, yrs) | Dystrophin immuno-staining | CK level (IU/L) | Maternal genotype |
|---|---|---|---|---|---|---|---|---|
| I-1 (42970) |
proband | Utah | 20 | Weakness | profound limb-girdle weakness (67) [Loss of ambulation at age 62] |
n.d. | n.d. | n.d. |
| I-2 (43194) |
brother | Utah | n/a | n/a | trace pelvic girdle weakness (age 58); denies symptoms via phone (age 61) | n.d. | n.d. | n.d. |
| II-1 (43043) |
proband | Michigan | 4 | incidental hyperCKemia | none (4) | diminished | 523 ↑ | carrier |
| II-2 (43640) |
brother | Michigan | 2 | incidental hyperCKemia | none (2) | n.d. | 5080 ↑ | carrier |
| III-1 (43800) |
proband | Missouri | 7 | Bilateral calf pain, post-exercise; elevated CK | trace deltoid weakness (7) | diminished | 8000 ↑ | n.d. |
| IV-1 (43676) |
proband | Missouri | 4 | incidental hyperCKemia | Minimal deltoid weakness, minimal heel cord contractures (4) | occasional fibers severely reduced | 4558 ↑ | n.d. |
| 43831, V-1 | proband | Wisconsin | “childhood” | myalgias, elevated CK (childhood); rhabdomyolysis (age 14) | none (14) | diminished | 19,189 ↑ | carrier |
| V-2 (43738) |
maternal cousin | Wisconsin | 12 | postexertional limb cramping and “stiffness” | none (16) | n.d. | n.d. | carrier |
| V-3 (43741) |
maternal cousin | Wisconsin | 2.5 | incidental hyperCKemia | none (4.5) | n.d. | “elevated” | carrier |
| VI-1 (43889) |
proband | Pennsylvania | 13 | incidental hyperCKemia, postexertional myalgia | none (14) | n.d. | 712 ↑ | carrier |
| VI-2 (43910) |
Maternal grandfather | Pennsylvania | “childhood” | severe post-exertional myalgias in childhood | none (73) | n.d. | n.d. | n.d. |
| VII DR0007 |
proband | Milan, Italy | 6 | incidental hyperCKemia; running difficulties, frequent falling | mild proximal weakness (12) | diminished | 2932 ↑ | carrier |