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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Main Authors: Martins, Carla, Brunel-Guitton, Catherine, Lortie, Anne, Gauvin, France, Morales, Carlos R., Mitchell, Grant A., Pshezhetsky, Alexey V.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2017
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388932/
https://ncbi.nlm.nih.gov/pubmed/28417072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.01.017
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares