Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome (Q24669597)

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English	Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome	scientific article

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scholarly article

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case report

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title

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome (English)

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main subject

acetylcholine

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inferred from title

multiple pterygium syndrome

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inferred from title

pterygium

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inferred from title

author

Hans van Bokhoven

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8

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Lihadh Al-Gazali

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10

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Neil V Morgan

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Neil V Morgan

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1

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Richard C Trembath

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Richard C Trembath

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14

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Phillip Cox

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Eamonn R Maher

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16

object named as

Eamonn R Maher

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Han G. Brunner

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15

object named as

Han G Brunner

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Irene A Aligianis

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7

object named as

Irene A Aligianis

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Shanaz Pasha

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6

object named as

Shanaz Pasha

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author name string

Louise A Brueton

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2

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Phillip Cox

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3

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Marie T Greally

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4

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John Tolmie

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5

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Tamas Marton

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9

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Jenny E V Morton

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11

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Christine Oley

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12

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Colin A Johnson

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13

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language of work or name

English

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publication date

August 2006

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published in

American Journal of Human Genetics

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volume

79

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issue

2

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page(s)

390-5

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cites work

Muscle channelopathies and critical points in functional and genetic studies

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PubMed Central

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Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

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Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

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7 April 2017

Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor

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The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo

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Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.

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Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis

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Diversity of neuromuscular pathology in lethal multiple pterygium syndrome.

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28 September 2017

Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors.

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PubMed Central

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Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis

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PubMed Central

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28 September 2017

Limb pterygium syndromes: a review and report of eleven patients.

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28 September 2017

Molecular distinction between fetal and adult forms of muscle acetylcholine receptor

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Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases

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Differential Expression Patterns of Five Acetylcholine Receptor Subunit Genes in Rat Muscle During Development

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126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

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Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.

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Structural basis of the different gating kinetics of fetal and adult acetylcholine receptors

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The lethal multiple pterygium syndromes

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PubMed Central

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28 November 2018

Multiple pterygium syndrome

1 reference

stated in

PubMed Central

reference URL

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retrieved

28 November 2018

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16826531

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16826531

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16826531

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/506256

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1181343

OpenCitations bibliographic resource ID

1181343

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1181343

PMC publication ID

1559492

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1181343

PubMed publication ID

16826531

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1181343

ResearchGate publication ID

6957847

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