https://www.selleckchem.com/pr....oducts/Rapamycin.htm
Late-onset Tay-Sachs disease (LOTS) is an autosomal-recessive lysosomal storage disease caused by deficient β-hexosaminidase A activity. LOTS is rare in the Ashkenazi Jews, but even rarer in the non-Jewish population. We report an Irish family expanding the LOTS phenotype (ataxia, diffuse muscle wasting, dystonia, chorea, belly dancer's dyskinesia, and neuropsychiatric features) associated with the known variant 1073 + 1G A and a novel variant c.459 + 24G C. LOTS should be considered in patients with similar symptoms and cer
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