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. 2017 Feb 14;12:33. doi: 10.1186/s13023-017-0589-1

Table 2.

Genotype correlation with neurological involvement

Genotype Neurological signs
n = 20
No neurological signs
n = 4
A439V (%) 1 (25) 3 (75)
R260W (%) 12 (60) 0 (0)
T348M (%) 3 (15) 1 (25)
Other mutations (%) 4 (20) 0 (0)