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]

Lyly et al. BMC Cell Biology 2007 8:22   doi:10.1186/1471-2121-8-22