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Myasthenia gravis with MuSK antibodies
  1. Maria Elena Farrugia*,
  2. Arthur Melms,
  3. Angela Vincent
  1. *Specialist Registrar in Neurology, Institute of Neurological Sciences, Glasgow;
  2. Professor of Neurology, Department of Neurology, University of Tuebingen;
  3. Professor of Neuroimmunology and Honorary Consultant in Imunology, Neurosciences Group, Weatherall Institute of Molecular Medicine and Department of Clinical Neurology, University of Oxford; Email: Angela.vincent{at}



Antibodies to the muscle acetylcholine receptor (AChR) are present in about 85% of patients with generalized myasthenia gravis, and 50% of patients with just ocular symptoms. However, up to 70% of the myasthenia patients without AChR antbodies, so called ‘seronegative’ myasthenia gravis, have antibodies to the muscle specific tyrosine kinase (MuSK). MuSK is another protein at the postsynaptic membrane of the neuromuscular junction, and plays a role in agrin-induced AChR clustering (Hoch et al. 2001). These patients may be difficult to recognize, and difficult to treat effectively. Here we describe four AChR antibody-negative/MuSK antibody-positive patients as examples.


Case 1

This patient had an age at onset and clinical presentation typical of myasthenia gravis but was difficult to treat. She was a 30-year old woman who developed diplopia, dysphagia and dysarthria during the third trimester of her first pregnancy. EMG showed a defect of neuromuscular

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