Table 1 Phenotype variability of the CLN1-patients
Mutation | Allele inherited with | Phenotype | Reference |
|---|---|---|---|
Y109D (c325T > G) | LINCL | ||
M1I (c3G > A) | [42] | ||
Y247H (c739T > C) | JNCL | ||
F85del (c252-254delCTT) | Exon skipping | ||
LINCL | [17] | ||
(IVS6-1G > T) | |||
G108R (c322G > C) | R151X (c451C > T) | ANCL | [14] |
L219Q (c656T > A) | R151X (c451C > T) | JNCL | [52] |