Alpha-mannosidosis: correlation between phenotype genotype and mutant MAN2B1 subcellular localisation

摘要

BackgroundAlpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities.