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Published 2014 | Version v1.0.0
Journal Article Open

Congenital Myasthenic Syndrome with Agrin Mutations

Abstract

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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Created:
March 30, 2023
Modified:
March 30, 2023