Atypical juvenile presentation of G(M2) gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene()

G(M2)-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes G(M2) ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of G(M2) ganglioside in endolysosomes and its presentation to β-hexosamini...

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Detalles Bibliográficos
Autores principales: Martins, Carla, Brunel-Guitton, Catherine, Lortie, Anne, Gauvin, France, Morales, Carlos R., Mitchell, Grant A., Pshezhetsky, Alexey V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388932/
https://www.ncbi.nlm.nih.gov/pubmed/28417072
http://dx.doi.org/10.1016/j.ymgmr.2017.01.017

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