Ontology highlight
ABSTRACT:
SUBMITTER: Borgwardt L
PROVIDER: S-EPMC4465300 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Orphanet journal of rare diseases 20150606
<h4>Background</h4>Alpha-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.<h4>Methods</h4>To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted effect of the mutations and the subcellular localisation of mutant MAN2B1 in cultured cells, ...[more]