Congenital myasthenic syndromes: Experiments of nature

Andrew G. Engel; Kinji Ohno; Steven M. Sine

doi:10.1016/S0928-4257(98)80147-2

Congenital myasthenic syndromes: Experiments of nature

Andrew G. Engel, Kinji Ohno, Steven M. Sine

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Recent studies indicate that mutations in the acetylcholine receptor (AChR) subunit genes are a common cause of the postsynaptic CMS. The mutations, which increase or decrease the response to acetylcholine, are experiments of nature that highlight functionally significant domains of the AChR.

Original language	English (US)
Pages (from-to)	113-117
Number of pages	5
Journal	Journal of Physiology Paris
Volume	92
Issue number	2
DOIs	https://doi.org/10.1016/S0928-4257(98)80147-2
State	Published - Apr 1998

Keywords

Acetylcholine receptor
Congenital myasthenic syndromes
Expression studies
Mutation analysis

ASJC Scopus subject areas

General Neuroscience
Physiology (medical)

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10.1016/S0928-4257(98)80147-2

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title = "Congenital myasthenic syndromes: Experiments of nature",

abstract = "Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Recent studies indicate that mutations in the acetylcholine receptor (AChR) subunit genes are a common cause of the postsynaptic CMS. The mutations, which increase or decrease the response to acetylcholine, are experiments of nature that highlight functionally significant domains of the AChR.",

keywords = "Acetylcholine receptor, Congenital myasthenic syndromes, Expression studies, Mutation analysis",

author = "Engel, {Andrew G.} and Kinji Ohno and Sine, {Steven M.}",

note = "Funding Information: Work in the authors' laboratories was supported NS6277 (AGE) and NS31744 (SMS) from the National Institutes of Health, Bethesda, MD, and a research grant from the Muscular Dystrophy Association (AGE).",

year = "1998",

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doi = "10.1016/S0928-4257(98)80147-2",

language = "English (US)",

volume = "92",

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T2 - Experiments of nature

AU - Engel, Andrew G.

AU - Ohno, Kinji

AU - Sine, Steven M.

N1 - Funding Information: Work in the authors' laboratories was supported NS6277 (AGE) and NS31744 (SMS) from the National Institutes of Health, Bethesda, MD, and a research grant from the Muscular Dystrophy Association (AGE).

PY - 1998/4

Y1 - 1998/4

N2 - Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Recent studies indicate that mutations in the acetylcholine receptor (AChR) subunit genes are a common cause of the postsynaptic CMS. The mutations, which increase or decrease the response to acetylcholine, are experiments of nature that highlight functionally significant domains of the AChR.

AB - Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Recent studies indicate that mutations in the acetylcholine receptor (AChR) subunit genes are a common cause of the postsynaptic CMS. The mutations, which increase or decrease the response to acetylcholine, are experiments of nature that highlight functionally significant domains of the AChR.

KW - Acetylcholine receptor

KW - Congenital myasthenic syndromes

KW - Expression studies

KW - Mutation analysis

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EP - 117

JO - Journal of Physiology Paris

JF - Journal of Physiology Paris

IS - 2

ER -

Congenital myasthenic syndromes: Experiments of nature

Abstract

Keywords

ASJC Scopus subject areas

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