The congenital myasthenic syndromes.
The congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission characterised by fatigable muscle weakness. Thus far, genetic analysis has identified mutations in eleven different genes but it is clear that additional phenotypic subgroups exist where the underlying genetics has not yet been defined. Although each syndrome results from defective synaptic transmission at the neuromuscular junction, the patients show a variable set of phenotypes. Here, we provide a brief clinical review.
Palace
Jackie
J
Department of Clinical Neurology, Level 3, West Wing, John Radcliffe Hospital, Headley Way, Headington OX3 9DU, UK. jacqueline.palace@clneuro.ox.ac.uk
Beeson
David
D
D006801:Humans; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics / Q000473:pathology / Q000503:physiopathology