Congenital Myasthenic Syndromes

J Gordon Millichap

doi:10.15844/pedneurbriefs-8-1-13

Congenital Myasthenic Syndromes

Pediatric Neurology Briefs

Volume 8 (1994): Issue 1

By: J Gordon Millichap

Open Access

|Jan 1994

Abstract

A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time of the AChR channel in a 5 year-old girl with myasthenic symptoms since birth is reported from the Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN.

References

Engel AG Nagel A Walls TJ Harper CM Waisburg HA Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor Muscle & Nerve 1993 Dec 16 12 1284 1292 10.1002/mus.880161204 8232383
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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 1014 10.1212/WNL.10.11.1007 13770917
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Uchitel O Engel AG Walls TJ Nagel A Atassi MZ Bril V Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor Muscle & Nerve 1993 Dec 16 12 1293 1301 10.1002/mus.880161205 8232384
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-8-1-13 | Journal eISSN: 2166-6482

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Language: English

Page range: 8 - 8

Published on: Jan 1, 1994

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Congenital Myasthenic Syndromes,

Laryngeal,

Pyridostigmine

© 1994 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 8 (1994): Issue 1