Table 1.
Main clinical data from patients with the CHRNE c.130dupG mutation + = present; - = absent; nd = no data or not tested; EO = early onset; IP = improvement with pyridostigmine; FS = fluctuating symptoms; IEM = imparied eye movement; PIE = partially impaired eye movement; SRI= impaired eye movement sparing rectus inferior muscles; PP = ptosis; LW = limb weakness; BS = bulbar symptoms; FI = facial involvement; NPC = no progressive course; Variants found associated with c.130dupG: c.803-2A>G (previously reported as pathogenic [11]); c.858_859dup (p.leu287ser fs*14, novel); c.422T>A (p.pro141.leu, previously reported as pathogenic [12]).
| Patient / Family | Age (years)/Sex | EO | IP | FS | IEM/ PIE/ SRI | PP | LW | BS | FI | NPC | Mutation state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1/1 | 30/M | + | + | + | +/+/+ | + | + | - | + | + | c.130dupG/c.130dupG |
| 2/1 | 29/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.130dupG |
| 3/1 | 12/M | + | + | + | +/+/+ | + | + | + | - | + | c.130dupG/c.130dupG |
| 6/3 | 28/F | + | + | + | +/+/+ | + | - | - | - | + | c.130dupG/c.130dupG |
| 7/3 | 19/F | + | + | + | +/-/- | + | + | - | - | + | c.130dupG/c.130dupG |
| 8/4 | 13/F | + | + | + | +/+/- | + | + | + | - | + | c.130dupG/c.130dupG |
| 9/5 | 32/M | + | + | + | +/+/- | + | + | + | + | + | c.130dupG/- |
| 18/14 | 12/M | + | + | + | +/+/- | + | + | + | + | + | c.130dupG/c.130dupG |
| 20/16 | 37/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.130dupG |
| 21/17 | 10/M | + | + | + | +/+/+ | + | + | + | + | - | c.130dupG/c.130dupG |
| 25/21 | 25/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.130dupG |
| 27/23 | 4/F | + | + | + | +/-/- | + | - | + | + | + | c.130dupG/c.130dupG |
| 29/25 | 34/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.130dupG |
| 34/29 | 14/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.130dupG |
| 40/34 | 64/M | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.803-2A>G |
| 41/34 | 54/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.803-2A>G |
| 42/35 | 8/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.130dupG |
| 43/36 | 16/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.858_859dup |
| 44/36 | 7/M | + | + | + | +/+/+ | + | - | - | + | + | c.130dupG/c.858_859dup |
| 49/41 | 38/F | + | + | + | +/+/+ | + | + | - | + | + | c.130dupG/c.130dupG |
| 50/42 | 21/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.130dupG |
| 51/42 | 28/F | + | + | + | +/+/+ | + | + | + | + | + | c.130dupG/c.130dupG |
| 60/51 | 43/F | + | + | + | -/-/- | + | + | + | - | + | c.130dupG/c.130dupG |
| 64/55 | 34/M | - | + | + | +/nd/nd | + | + | - | + | + | c.130dupG/c.130dupG |
| 65/55 | 38/F | + | + | + | +/nd/nd | + | + | + | + | - | c.130dupG/c.130dupG |
| 66/56 | 18/F | + | + | + | +/nd/nd | + | + | - | + | + | c.130dupG/c.130dupG |
| 67/57 | 27/F | + | + | + | +/nd/nd | + | + | + | + | + | c.130dupG/c.130dupG |
| 68/58 | 34/M | + | + | + | +/nd/nd | + | + | + | + | + | c.130dupG/c.130dupG |
| 69/58 | 19/M | + | + | + | +/nd/nd | + | + | - | - | + | c.130dupG/c.130dupG |
| 70/59 | 19/F | + | nd | + | +/nd/nd | + | - | nd | + | + | c.130dupG/c.130dupG |
| 71/59 | 34/M | - | nd | + | +/nd/nd | + | + | nd | + | + | c.130dupG/c.130dupG |
| 72/60 | 5/F | + | + | + | +/nd/nd | + | + | + | + | + | c.130dupG/c.422T>A |