Genetic heterogeneity in GM1-gangliosidosis
Copyright policy )Genetic heterogeneity in GM1-gangliosidosis
GM1-GANGLIOSIDOSIS is an inherited lysosomal storage disease which is due to a deficiency of the acid hydrolase GM1-β-galactosidase1. During the past few years several clinical variants have been described2–6 that differ in time of onset of symptoms, involvement of visceral organs or skeletal tissue and in the degree of neuronal and mental deterioration. Some of these variants have been related to different properties of the deficient β-galactosidases5,7 but the significance of the experimental data8 has been questioned. Several investigators have speculated on the genetic background of the different variants2,8,9 but no experimental evidence has been provided to support the hypotheses.
- Queen Elizabeth College, Mauritius Mauritius
- Erasmus University Rotterdam Netherlands
Genes, Gangliosides, Genetic Complementation Test, Mutation, Humans, Gangliosidoses, Hybrid Cells, Galactosidases
Genes, Gangliosides, Genetic Complementation Test, Mutation, Humans, Gangliosidoses, Hybrid Cells, Galactosidases
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