Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis

Abstract excerpt

Myasthenia gravis (MG) is a rare, treatable antibody-mediated disease which is characterised 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 characterised by treatment resistant weakness of the extraocular muscles (EOMs), occurs in a proportion of myasthenics...

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