Table 2. Clinical and Laboratory Features of Thirteen Patients with CAPN3 Mutations.
| Mutation* | Sex/ age (yr) | Onset age (yr) | Initial clinical diagnosis | FH | WS | Contracture | CK† | GMW scale | WB | |
|---|---|---|---|---|---|---|---|---|---|---|
| F1 | c.1795dupA/c.2120A>G | F/44 | 36 | Muscular dystrophy | - | - | Ankle | 27 | 3 | ND |
| F2 | c.1795dupA/c.1795dupA | F/22 | 15 | Muscular dystrophy | - | - | Ankle | 20 | 3 | ND |
| F3a | c.2050+1G>A/c.1468C>T | F/35 | 23 | Muscular dystrophy | + | + | Ankle | 58 | 7 | ND |
| F3b | c.2050+1G>A/c.1468C>T | F/33 | 23 | Muscular dystrophy | + | + | Ankle | 31 | 7 | ND |
| F4 | c.1789_1790insA/c.706G>A | F/16 | 12 | Muscular dystrophy | - | + | Ankle | 20 | 4 | + |
| F5a | c.2120A>G/c.2384C>T | F/42 | 25 | Muscular dystrophy | + | - | Ankle | 6 | 8 | ND |
| F5b | c.2120A>G/c.2384C>T | F/39 | 33 | Muscular dystrophy | + | - | Ankle | 15 | 7 | - |
| F5c | c.2120A>G/c.2384C>T | M/34 | 15 | Muscular dystrophy | + | - | Ankle | 11 | 6 | ND |
| F6 | c.2120A>G/c.2120A>G | M/21 | 20 | Polymyositis | - | - | - | 19 | 1 | - |
| F7 | c.1789_1790insA/c.1524+1G>T | F/19 | 8 | Emery-Dreifuss muscular dystrophy | + | + | Ankle, elbow | 11 | ND | - |
| F8 | c.1789_1790insA/c.2120A>G | M/19 | 16 | HyperCKemia | + | - | - | 20 | 0 | - |
| F9 | c.2120A>G/? | M/33 | 31 | Polymyositis | - | - | - | ND | 7 | - |
| F10 | c.2184+1G>T/? | F/28 | 22 | Muscular dystrophy | - | - | - | 3 | 6 | - |
FH, family history; WS, winged scapula; GMW scale, Gardner-Medwin and Walton scale; WB, Western blot; ND, no data.
*Mutation was assigned according to the CAPN3 (NM_000070) mRNA sequences, †Serum creatine kinase (CK) level is expressed as x-fold above the upper limit of the normal range.