Table 2 Molecular findings in 124 NCL patients according to both clinical form and mutated gene
From: Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
GENE | INCL | LINCL | JNCL | Total (%) |
|---|---|---|---|---|
CLN1 | 6 | 9 | 2 | 17 (13.7) |
CLN2 | 0 | 29 | 0 | 29 (23.5) |
CLN3 | 0 | 0 | 16 | 16 (12.9) |
CLN5 | 0 | 7 | 0 | 7 (5.6) |
CLN6 | 0 | 18 | 3 | 21 (16.9) |
CLN7 | 0 | 14 | 0 | 14 (11.3) |
CLN8 | 0 | 7 | 0 | 7 (5.6) |
CLN10 | 0 | 1 | 0 | 1 (0.8) |
CLNX | 2 | 9 | 1 | 12 (9.7) |
Total (%) | 8 (6.5) | 94 (75.8) | 22 (17.7) | 124 |