Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.

Abstract excerpt

Clinical phenotypes of GM2-gangliosidosis are complex. In the past 5 years it has become possible to dissect out the phenotypic complexity on the basis of abnormalities on the DNA level. Available data on the 18 disease-causing mutations so far identified in the beta-hexosaminidase alpha-gene allow an oversimplified generalization; mutations that produce no or highly unstable mRNA cause the most severe infantile...

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