Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. (Q54116685)

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22 March 2020

title

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome (English)

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22 March 2020

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1

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22 March 2020

Julien Fauré

13

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22 March 2020

Anthony Béhin

15

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22 March 2020

author name string

P Laforêt

2

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22 March 2020

N C Voermans

3

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22 March 2020

N Roux-Buisson

4

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22 March 2020

F Bompaire

5

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22 March 2020

J Rendu

6

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22 March 2020

M Duno

7

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F Feillet

8

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E-J Kamsteeg

9

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N S Poulsen

10

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J R Dahlqvist

11

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N B Romero

12

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J Vissing

14

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language of work or name

English

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publication date

29 December 2017

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Acta Neurologica Scandinavica

22 March 2020

published in

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volume

137

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22 March 2020

issue

5

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page(s)

452-461

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Rhabdomyolysis: review of the literature

22 March 2020

cites work

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Myopathic causes of exercise intolerance with rhabdomyolysis

21 January 2018

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

21 January 2018

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Idiopathic inflammatory myopathies.

21 January 2018

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Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

21 January 2018

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Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis

21 January 2018

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Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers.

21 January 2018

1 reference

Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families

21 January 2018

1 reference

Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.

21 January 2018

1 reference

Genetic variation in RYR1 and malignant hyperthermia phenotypes

21 January 2018

1 reference

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

21 January 2018

1 reference

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel

21 January 2018

1 reference

21 January 2018

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Ryanodine receptors: allosteric ion channel giants.

21 January 2018

1 reference

ACTN3 genotype is associated with human elite athletic performance

21 January 2018

1 reference

McArdle disease: a clinical review

21 January 2018

1 reference

Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle

21 January 2018

1 reference

Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families

21 January 2018

1 reference

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

21 January 2018

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Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

21 January 2018

1 reference

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

21 January 2018

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Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

21 January 2018

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Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation

21 January 2018

1 reference

Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population

21 January 2018

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

21 January 2018

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

21 January 2018

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Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/ANE.12885

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29635721%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

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