Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. (scientific article published on 29 December 2017)

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Q38221632

Ryanodine receptors: allosteric ion channel giants.

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

Q38888258

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

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RYR1-related myopathies: a wide spectrum of phenotypes throughout life

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

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

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Genetic variation in RYR1 and malignant hyperthermia phenotypes

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

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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

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

Q46243844

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

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

Q54295346

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

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

Q59034021

P433

issue

P407

language of work or name

English

Q1860

P304

page(s)

452-461

P577

publication date

2017-12-29

P1433

published in

Acta Neurologica Scandinavica

Q4676732

P1476

title

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome

P478

volume

137

Reverse relations

cites work (P2860)

Q58696990	Correlation of phenotype with genotype and protein structure in RYR1-related disorders
Q94544834	Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019