Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations

• Main Authors: Evangelia Bountouvi (Author), Anna Papadopoulou (Author), Marie T. Vanier (Author), Georgia Nyktari (Author), Spyridon Kanellakis (Author), Helen Michelakakis (Author), Argyrios Dinopoulos (Author)
• Format: Book
• Published: BMC, 2017-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2. Contrary to other populations, publi...