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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Ngā kaituhi matua: J Gordon Millichap (Author), John J Millichap (Author)
Hōputu: Pukapuka
I whakaputaina: Pediatric Neurology Briefs Publishers, 2014-10-01T00:00:00Z.
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Tau karanga: A1234.567
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