Fig. 1From: Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report a NPC1 gene – exon 19: mutation c.2800C>T heterozygous (p.Arg 934*). b NPC1 gene – exon 21: mutation c.3182T>C heterozygous (p.Ile1061Thr)Back to article page