Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease

Figure 2

Families’ pedigrees of Case 1 (a), Case 2 (d), and Case 3 (g), showing the mutations found. Partial DNA sequence of NPC1 gene of Case 1 showing the p.P1007A mutation in exon 20 (b) and p.F1087L mutation in exon 22 (c). Partial DNA sequence of NPC1 gene of Case 2 demonstrating p.Q921P mutation in exon 18 (e) and p.G992R mutation in exon 20 (f). Partial DNA sequence of NPC1 gene of Case 3 demonstrating p.R348* in exon 8 (h) and p.V1165M in exon 23 (i). NA: not available.

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