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

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

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...

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Bibliographic Details
Main Authors: Evangelia Bountouvi, Anna Papadopoulou, Marie T. Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis, Argyrios Dinopoulos
Format: Article
Language:English
Published: BMC 2017-05-01
Series:BMC Medical Genetics
Subjects:
Haplotype
Kindred
Miglustat
Niemann-Pick type C disease (NPC)
Mutation
Polymorphisms
Online Access:http://link.springer.com/article/10.1186/s12881-017-0409-4

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http://link.springer.com/article/10.1186/s12881-017-0409-4

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