The emerging diversity of neuromuscular junction disorders.
Research advances over the last 30 years have shown that key transmembrane proteins at the neuromuscular junction are vulnerable to antibody-mediated autoimmune attack These targets are acetylcholine receptors (AChRs) and muscle specific kinase (MuSK) in myasthenia gravis, voltage-gated calcium channels (VGCCs) in the Lambert-Eaton myasthenic syndrome (LEMS), and voltage-gated potassium channels (VGKCs) in neuromyotonia. In parallel with these immunological advances, mutations identified in genes encoding pre-synaptic, synaptic and postsynaptic proteins that are crucial to neuromuscular transmission have revealed a similar diversity of congenital myasthenic syndromes (CMS). These discoveries have had a major impact on diagnosis and management.
Newsom-Davis
J
J
Department of Clinical Neurology, University of Oxford, UK.
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D015624:Lambert-Eaton Myasthenic Syndrome / Q000503:physiopathology; D009157:Myasthenia Gravis / Q000235:genetics / Q000503:physiopathology*; D020941:Myasthenia Gravis, Neonatal / Q000235:genetics; D009468:Neuromuscular Diseases / Q000145:classification* / Q000503:physiopathology; D009469:Neuromuscular Junction / Q000503:physiopathology*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000503:physiopathology