Dataset Information
UCT Neurology Research Group Data Access Committee
Ontology highlight
ABSTRACT:
PROVIDER: EGAC00001001206 | EGA |
REPOSITORIES: EGA
Publications
Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis.
Frontiers in genetics 20190301
Myasthenia gravis (MG) is a rare, treatable antibody-mediated disease which is characterized by muscle weakness. The pathogenic antibodies are most frequently directed at the acetylcholine receptors (AChRs) at the skeletal muscle endplate. An ophthalmoplegic subphenotype of MG (OP-MG), which is characterized by treatment resistant weakness of the extraocular muscles (EOMs), occurs in a proportion of myasthenics with juvenile symptom onset and African genetic ancestry. Since the pathogenetic mech ...[more]