Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome (Q34739919)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome (English)

1 reference

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multiple pterygium syndrome

24 February 2020

main subject

1 reference

1 reference

8

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24 February 2020

Gijs van Haaften

10

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24 February 2020

14

Eamonn R Maher

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24 February 2020

author name string

Arthur B McKie

1

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24 February 2020

Atif Alsaedi

2

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24 February 2020

Julie Vogt

3

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24 February 2020

Kyra E Stuurman

4

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24 February 2020

Marjan M Weiss

5

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24 February 2020

Hassan Shakeel

6

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24 February 2020

Louise Tee

7

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24 February 2020

Peter G J Nikkels

9

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24 February 2020

Soo-Mi Park

11

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24 February 2020

Jasper J van der Smagt

12

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24 February 2020

Marianna Bugiani

13

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24 February 2020

publication date

5 December 2014

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Acta Neuropathologica Communications

24 February 2020

published in

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24 February 2020

volume

2

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24 February 2020

page(s)

148

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Creative Commons Attribution 4.0 International

24 February 2020

copyright license

start time

1 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Genotype-phenotype correlations in recessive RYR1-related myopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Mapping domains and mutations on the skeletal muscle ryanodine receptor channel

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

3D Mapping of the SPRY2 domain of ryanodine receptor 1 by single-particle cryo-EM.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Diversity of neuromuscular pathology in lethal multiple pterygium syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

An autosomal dominant multiple pterygium syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

RYR1 mutations are a common cause of congenital myopathies with central nuclei

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4271450

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

26 October 2018

1 reference

12 December 2020

Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families

1 reference

12 December 2020

Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?

1 reference

12 December 2020

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

1 reference

12 December 2020

Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis

1 reference

12 December 2020

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

1 reference

12 December 2020

10.1186/PREACCEPT-4966689571395352

Identifiers

DOI

1 reference

PubMed publication ID

25476234

10.1186/S40478-014-0148-0

4 August 2017

1 reference

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24 February 2020

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24 February 2020

PubMed publication ID

25476234

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25476234%20AND%20SRC:MED&resulttype=core&format=json