Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene

GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A...

Full description

Bibliographic Details
Main Authors: Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky
Format: Article
Language:English
Published: Elsevier 2017-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Gangliosidosis
GM2 ganglioside
GM2 ganglioside activator protein
Lysosomal storage disease
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916301422

Internet

http://www.sciencedirect.com/science/article/pii/S2214426916301422

Similar Items