Congenital myasthenic syndromes

Andrew G. Engel

doi:10.1007/978-1-4614-6567-6_51

Congenital myasthenic syndromes

Andrew G. Engel

Neurology

Research output: Chapter in Book/Report/Conference proceeding › Chapter

2 Scopus citations

Abstract

Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission. This chapter discusses the clinical and electrophysiological manifestations of these relatively rare disorders as well as their pathophysiology, genetics, and management.

Original language	English (US)
Title of host publication	Neuromuscular Disorders in Clinical Practice
Publisher	Springer New York
Pages	1111-1127
Number of pages	17
Volume	9781461465676
ISBN (Electronic)	9781461465676
ISBN (Print)	1461465664, 9781461465669
DOIs	https://doi.org/10.1007/978-1-4614-6567-6_51
State	Published - Nov 1 2014

Keywords

Acetylcholine Receptor
Acetylcholinesterase
Congenital Myasthenic Syndromes
Dok-7
Expression Studies
Glutamine-fructose-6-phosphate transaminase deficiency (GFPT1)
Mutation Analysis
Neuromuscular Transmission
Rapsyn

ASJC Scopus subject areas

Medicine(all)

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10.1007/978-1-4614-6567-6_51

Cite this

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title = "Congenital myasthenic syndromes",

abstract = "Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission. This chapter discusses the clinical and electrophysiological manifestations of these relatively rare disorders as well as their pathophysiology, genetics, and management.",

keywords = "Acetylcholine Receptor, Acetylcholinesterase, Congenital Myasthenic Syndromes, Dok-7, Expression Studies, Glutamine-fructose-6-phosphate transaminase deficiency (GFPT1), Mutation Analysis, Neuromuscular Transmission, Rapsyn",

author = "Engel, {Andrew G.}",

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T1 - Congenital myasthenic syndromes

AU - Engel, Andrew G.

PY - 2014/11/1

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N2 - Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission. This chapter discusses the clinical and electrophysiological manifestations of these relatively rare disorders as well as their pathophysiology, genetics, and management.

AB - Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission. This chapter discusses the clinical and electrophysiological manifestations of these relatively rare disorders as well as their pathophysiology, genetics, and management.

KW - Acetylcholine Receptor

KW - Acetylcholinesterase

KW - Congenital Myasthenic Syndromes

KW - Dok-7

KW - Expression Studies

KW - Glutamine-fructose-6-phosphate transaminase deficiency (GFPT1)

KW - Mutation Analysis

KW - Neuromuscular Transmission

KW - Rapsyn

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M3 - Chapter

AN - SCOPUS:84949177928

SN - 1461465664

SN - 9781461465669

VL - 9781461465676

SP - 1111

EP - 1127

BT - Neuromuscular Disorders in Clinical Practice

PB - Springer New York

ER -

Congenital myasthenic syndromes

Abstract

Keywords

ASJC Scopus subject areas

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