Biochemical data are presented of a 29-year-old male, who shows progressive psychomotor retardation and a beta-galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1-gangliosidosis is based on a different gene mutation than is present in types 1 and 2. No complementation is observed in fusion experiments with cells from type 3 variant.

DOI: 10.1111/j.1399-0004.1976.tb02272.x
Version: za2963e q8zab q8zba q8zca q8zdd q8ze1 q8zf9 q8zg0