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Table 1 Patient characteristics

From: Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

Patient Sex Mutation Age at neurological symptoms (yrs) Age at diagnosis (yrs) Age at examination (yrs) Miglustat
1 Female Compound heterozygous mutations c.1211G > A (p. Arg404Gln) and c.2861C > T (p. Ser954Leu) 18 23 35 No
2 Female Homozygous mutations c.3182 T > C (p.IIe1061Thr) 8 21 25 Yes
3 Male Compound heterozygous mutations c.2474A > G (p.Tyr825Cys) and c.3019C > G (p.Pro1007Ala) 52 59 61 Yes
4 Female Homozygous mutations p.Gly640Arg 14 18 20 Yes
5 Male Compound heterozygous mutations c.346C > T (p.R116X) and c.247A > G (p. Y825C) 14 17 19 No
6 Male Compound heterozygous mutations c.1918G > A (p.Gly640Arg) and c.3451G > A (p.Ala1151Thr) 6 14 19 Yes
7 Male Compound heterozygous mutations c.3203C > T (p.Thr1068IIe) and c.3614C > A (p.Thr1205Lys) 40 52 58 Yes
8 Female Homozygous mutations c.3182 T > C (p.IIe1061Thr) 11 6 26 No