New horizons for congenital myasthenic syndromes

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

During the past five years an increasing number of patients have been diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes have been recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.

Original languageEnglish (US)
Pages (from-to)54-62
Number of pages9
JournalAnnals of the New York Academy of Sciences
Volume1275
Issue number1
DOIs
StatePublished - Dec 2012

Fingerprint

Congenital Myasthenic Syndromes
Plectin
Glycosylation
Defects
Choline O-Acetyltransferase
Cholinergic Receptors
Isomerization
Congenital Structural Myopathies
Intermediate Filaments
Mutation
Syndrome

Keywords

  • Acetylcholine receptor
  • Centronuclear myopathy
  • Choline acetyltransferase
  • Congenital myasthenic syndromes
  • DPAGT1
  • Fast-channel syndromes
  • GFPT1
  • Plectin

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science

Cite this

New horizons for congenital myasthenic syndromes. / Engel, Andrew G; Shen, Xin Ming; Selcen, Duygu; Sine, Steven M.

In: Annals of the New York Academy of Sciences, Vol. 1275, No. 1, 12.2012, p. 54-62.

Research output: Contribution to journalArticle

@article{d3235462a5dc4fc18e252ae0b3a6893f,
title = "New horizons for congenital myasthenic syndromes",
abstract = "During the past five years an increasing number of patients have been diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes have been recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.",
keywords = "Acetylcholine receptor, Centronuclear myopathy, Choline acetyltransferase, Congenital myasthenic syndromes, DPAGT1, Fast-channel syndromes, GFPT1, Plectin",
author = "Engel, {Andrew G} and Shen, {Xin Ming} and Duygu Selcen and Sine, {Steven M}",
year = "2012",
month = "12",
doi = "10.1111/j.1749-6632.2012.06803.x",
language = "English (US)",
volume = "1275",
pages = "54--62",
journal = "Annals of the New York Academy of Sciences",
issn = "0077-8923",
publisher = "Wiley-Blackwell",
number = "1",

}

TY - JOUR

T1 - New horizons for congenital myasthenic syndromes

AU - Engel, Andrew G

AU - Shen, Xin Ming

AU - Selcen, Duygu

AU - Sine, Steven M

PY - 2012/12

Y1 - 2012/12

N2 - During the past five years an increasing number of patients have been diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes have been recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.

AB - During the past five years an increasing number of patients have been diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes have been recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.

KW - Acetylcholine receptor

KW - Centronuclear myopathy

KW - Choline acetyltransferase

KW - Congenital myasthenic syndromes

KW - DPAGT1

KW - Fast-channel syndromes

KW - GFPT1

KW - Plectin

UR - http://www.scopus.com/inward/record.url?scp=84871546603&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84871546603&partnerID=8YFLogxK

U2 - 10.1111/j.1749-6632.2012.06803.x

DO - 10.1111/j.1749-6632.2012.06803.x

M3 - Article

C2 - 23278578

AN - SCOPUS:84871546603

VL - 1275

SP - 54

EP - 62

JO - Annals of the New York Academy of Sciences

JF - Annals of the New York Academy of Sciences

SN - 0077-8923

IS - 1

ER -