Congenital Myasthenic Syndrome with Agrin Mutations

J Gordon Millichap; John J Millichap

doi:10.15844/pedneurbriefs-28-10-5

Congenital Myasthenic Syndrome with Agrin Mutations

Pediatric Neurology Briefs

Volume 28 (2014): Issue 10

By: J Gordon Millichap and John J Millichap

Open Access

|Oct 2014

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.

References

Nicole S Chaouch A Torbergsen T Bauché S de Bruyckere E Fontenille MJ Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy Brain 2014 Sep 137 Pt 9 2429 43 10.1093/brain/awu160 24951643
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Parr JR Andrew MJ Finnis M Beeson D Vincent A Jayawant S How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia Arch Dis Child 2014 Jun 99 6 539 42 10.1136/archdischild-2013-304788 24500997
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Cruz PM Palace J Beeson D Congenital myasthenic syndromes and the neuromuscular junction Curr Opin Neurol 2014 Oct 27 5 566 75 10.1097/WCO.0000000000000134 25159927
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Millichap JG Dodge PR Diagnosis and treatment of myasthenia gravis in infancy, childhood, and adolescence: a study of 51 patients Neurology 1960 Nov 10 1007 14 10.1212/WNL.10.11.1007 13770917
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-28-10-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 77 - 78

Published on: Oct 1, 2014

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Neurology,

Pediatrics,

Child Development,

Nervous System Diseases,

Brain Diseases

© 2014 J Gordon Millichap, John J Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 28 (2014): Issue 10