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Text
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URL Address
<a href="http://doi.org/10.1016/j.pediatrneurol.2014.07.032" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.pediatrneurol.2014.07.032</a>
Pages
717–720
Issue
5
Volume
51
Dublin Core
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Title
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Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.
Publisher
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Pediatric neurology
Date
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2014
2014-11
Subject
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congenital myasthenic syndrome; Congenital/*genetics/therapy; Continuous Positive Airway Pressure/methods; Humans; Infant; Male; Muscle Proteins/*genetics; Mutation/*genetics; Myasthenic Syndromes; next-generation sequencing; pyridostigmine; rapsyn
Creator
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Das Alvin S; Agamanolis Dimitri P; Cohen Bruce H
Description
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BACKGROUND: The clinical presentation of congenital myasthenic syndromes is similar to many other neuromuscular disorders of infancy, and with 12 known discrete genetic forms of congenital myasthenic syndromes, both the diagnosis and treatment decisions present clinical challenges. PATIENT DESCRIPTION: We report a
Identifier
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<a href="http://doi.org/10.1016/j.pediatrneurol.2014.07.032" target="_blank" rel="noreferrer noopener">10.1016/j.pediatrneurol.2014.07.032</a>
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Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
2014
Agamanolis Dimitri P
Cohen Bruce H
congenital myasthenic syndrome
Congenital/*genetics/therapy
Continuous Positive Airway Pressure/methods
Das Alvin S
Humans
Infant
Male
Muscle Proteins/*genetics
Mutation/*genetics
Myasthenic Syndromes
next-generation sequencing
Pediatric neurology
pyridostigmine
rapsyn