Skip to main content

Table 1 GALC Mutations Identified in 33 Biochemically Confirmed Krabbe Disease Patients at Emory Genetics Laboratory

From: Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease

Mutation Category

# of Patients

% of Patients

Two point mutations

16

16/33 = 48.5%

One point mutation and one 30-kb deletion

8

8/33 = 24.2%

Two 30-kb deletions

4

4/33 = 12.1%

One known mutation and one large deletion or duplication

3

3/33 = 9.1%

One known mutation and negative array CGH

2

2/33 = 6.1%