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Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity

30 Sept 2010

Abstract excerpt

BACKGROUND: GM1 gangliosidosis (GM1) is an autosomal recessive lysosomal storage disease caused by deficiency of acid beta-galactosidase (GLB1; EC3.2.1.23). Here, we identify three novel mutations in the GLB1 gene from two Han Chinese patients with GM1 that appear correlated with clinical phenotype. METHODS: One of the two Han Chinese patients with GM1 presented with the juvenile form, and the other with the...

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PMID: 20920281
DOI: 10.1186/1423-0127-17-79

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