Table 1.
Mutations of GJA12 (or CX46.6) and Clinical Data of Patients with PMLD
|
MCV and SCV, in m/s (Age-Corrected Minimal Normal Value; Age)c |
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| Median Nerve |
Tibial Nerve |
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| Family(Individual) | Mutation (Amino Acid Substitution; Class of Mutation) | Age at Onset of Nystagmus(wk) | Age at Unaided Sittinga(mo) | Age at Unaided Walkingb(years) | Age Wheelchair Bound(years) | Type of Seizures (Age at Onset, in Years) | MCV | SCV | MCV | SCV | Peroneal Nerve MCV |
| 1 (III:1) | c.857T→C (M286T; missense) | 7 | 15 | Not achieved | 5.5 | Complex partial (8) | 59 (51; 21 years) | 53 (40; 21 years) | 38 (43; 21 years) | 34 (41; 21 years) | 41 (49; 21 years) |
| 1 (III:3) | 7 | 6 | Not achieved | 5.5 | Simple partial (12) | 39 (51; 14 years) | 45 (40; 14 years) | 36 (43; 14 years) | ND | 37 (48; 14 years) | |
| 1 (III:4) | 12 | 12 | 5 | 6.5 | Complex partial (7) | 67 (51; 18 years) | 64 (40; 18 years) | ND | 40 (44; 14 years)d | 48 (49; 18 years) | |
| 2 | c.268C→T (P90S; missense) c.989delC (frameshift) | Congenital | 8 | Not achieved | 6 | Complex partial (7) | ND | ND | 42 (43; 10 years) | 68 (44; 10 years) | ND |
| 3 | c.718C→T (R240X; nonsense) c.814T→G (Y272D; missense) | Congenital | Not achieved | Not achieved | 1 | No seizures | ND | ND | 37 (30; 8 mo) | ND | ND |
a
Normal age is 7–8 mo.
b
Normal age is 13–15 mo.
c
ND = not determined.
d
SCV is for the sural nerve.