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. 2012 Oct 16;79(16):1662–1670. doi: 10.1212/WNL.0b013e31826e9ad2

Table.

Demographic data of patients with MLDa

graphic file with name znl04012-0418-t01.jpg

Abbreviations: ASA = arylsulfatase A; GMFC-MLD = Gross Motor Function Classification system for MLD; MLD = metachromatic leukodystrophy; NA = not available; NCV = nerve conduction velocity.

a

Patients 12 and 18 are siblings.

b

Nerve conduction velocity of median nerve in ms (normal 45–55 ms).

c

Units for ASA activity: nmol/h/mg (normal 20–110 nmol/h/mg).

d

Homozygous genotypes.

e

The most common mutation for late-infantile MLD.

f

In combination with rs743616.

g

The protein is probably not generated due to nonsense-mediated mRNA decay.