Published 2014 | Version v1.0.0
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Congenital Myasthenic Syndrome with Agrin Mutations
Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a distal myopathy.
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2014When the item was originally created.