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Clinically affected;affected brother is GM17723;normal early development;hypotonia at 8 months;ataxia and athetosis at 18 months;did not learn to walk without aid;no speech except for a few words;urinary free sialic acid: 40 micromole/mmole creatinine ( control = 14);donor subject is homozygous for the Finnish founder mutations: a C-to-T transition at nucleotide 115 (115C>T) in exon 2 of the SLC17A5 gene which results in a missense mutation ARG39CYS (R39C) .
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