Researchers identify CLCN6 as disease gene for severe lysosomal neurodegenerative disorder

A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie and the Max Delbrück Center für Molekulare Medizin, together with an international team of researchers, have now analyzed the effect of a point mutation that was found in three unrelated affected children.