Table 4 Correlation between genotype and phenotype in 28 Japanese subjects

From: Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation

Mutation

Infantile

Late-infantile

Juvenile

Adult

Total allele

12Del3Ins

9

0

2

0

11

T652P

5

0

0

0

5

R515H

2

1

0

0

3

R204X

2

0

0

0

2

P302A

1

1

0

0

2

S52F

1

0

0

0

1

W115X

1

0

0

0

1

393delT

1

0

0

0

1

I234T

1

0

0

0

1

S257F

1

0

0

0

1

T262I

1

0

0

0

1

L364R

1

0

0

0

1

W410G

1

0

0

0

1

1719-1720insT

0

0

1

0

1

W647X

0

0

1

0

1

IVS6+5G>A

0

0

0

1

1

Y354X

0

0

0

1

1

I66M+I289V

0

0

3

5

8

G270H

0

1

0

4

5

L618S

0

1

0

3

4

Total allele

27

4

7

14

52

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