RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Journal of Medical Genetics

• Publication date

  2004-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.2003.014274PMID 14985404PMCID PMC1735714
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

  2003cited by this paper
• The Pore Region of the Skeletal Muscle Ryanodine Receptor Is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease

  2003cited by this paper
• 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

  2002cited by this paper
• Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

  2002cited by this paper
• RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes

  2002cited by this paper
• A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

  2002cited by this paper
• Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th-20th January 2001, Hilversum, The Netherlands.

  2002cited by this paper
• Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.

  2002cited by this paper
• Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

  2002cited by this paper
• Skeletal muscle channelopathies

  2002cited by this paper
• The spectrum of pathology in central core disease.

  2002cited by this paper
• Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

  2001cited by this paper
• Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

  2001cited by this paper
• Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

  2001cited by this paper
• Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

  2001cited by this paper
• Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

  2001cited by this paper
• Malignant hyperthermia in infancy and identification of novel RYR1 mutation.

  2000cited by this paper
• Ryanodine receptor mutations in malignant hyperthermia and central core disease

  2000cited by this paper
• Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance.

  2000cited by this paper
• Malignant hyperthermia: advances in clinical management and diagnosis.

  2000cited by this paper
• A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

  2000cited by this paper
• An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

  2000cited by this paper
• Measurement of Resting Cytosolic Ca2+ Concentrations and Ca2+ Store Size in HEK-293 Cells Transfected with Malignant Hyperthermia or Central Core Disease Mutant Ca2+ Release Channels*

  1999cited by this paper
• Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

  1999cited by this paper
• Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.

  1999cited by this paper
• Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

  1999cited by this paper
• A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

  1999cited by this paper
• Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.

  1998cited by this paper
• Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

  1998cited by this paper
• A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance.

  1998cited by this paper
• Fifty year follow-up of a patient with central core disease shows slow but definite progression.

  1998cited by this paper
• Caffeine and Halothane Sensitivity of Intracellular Ca2+ Release Is Altered by 15 Calcium Release Channel (Ryanodine Receptor) Mutations Associated with Malignant Hyperthermia and/or Central Core Disease*

  1997cited by this paper
• Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects.

  1996cited by this paper
• Anesthetic complications in muscle disorders.

  1995cited by this paper
• Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed.

  1995cited by this paper
• Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.

  1994cited by this paper
• A mutation in the human ryanodine receptor gene associated with central core disease

  1993cited by this paper
• Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

  1993cited by this paper
• Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

  1993cited by this paper
• A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.

  1991cited by this paper
• Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

  1991cited by this paper
• A simple salting out procedure for extracting DNA from human nucleated cells.

  1988cited by this paper
• Malignant hyperthermia: relationship to other diseases.

  1988cited by this paper
• Central Core Disease: CLINICAL FEATURES IN 13 PATIENTS

  1987cited by this paper
• Duration of fast before elective surgery.

  1985cited by this paper
• Laboratory diagnosis of malignant hyperpyrexia susceptibility (MHS). European MH Group.

  1985cited by this paper
• A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group.

  1984cited by this paper
• Central core disease: clinical and pathological evidence of progression within a family.

  1979cited by this paper
• A new congenital non-progressive myopathy.

  1956cited by this paper

• Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation

  2025cites this paper
• Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.

  2025cites this paper
• Challenges in genetic counseling for RYR1-related myopathies.

  2025cites this paper
• A case report of central core disease with repeated foaming at the mouth as the initial symptom

  2023cites this paper
• Molecular Aspects Implicated in Dantrolene Selectivity with Respect to Ryanodine Receptor Isoforms

  2023cites this paper
• Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.

  2022cites this paper
• Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases.

  2022cites this paper
• A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease

  2021cites this paper
• Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI

  2021cites this paper
• Homology modeling and docking study of diamondback moth ryanodine receptor reveals the mechanisms for channel activation, insecticide binding and resistance.

  2020cites this paper
• iPSC-derived progenitor stromal cells provide new insights into aberrant musculoskeletal development and resistance to cancer in down syndrome

  2020cites this paper
• Update on Congenital Myopathies in Adulthood

  2020cites this paper
• Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies—Present State, Challenges, and Perspectives

  2020cites this paper
• Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.

  2020cites this paper
• RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families

  2019cites this paper
• Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes

  2019cites this paper
• A 6-Year-Old Boy with Respiratory and Feeding Difficulties at Birth, Delayed Gross Motor Milestones, and Facial and Proximal Lower Limb Weakness

  2019cites this paper
• Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

  2019cites this paper
• Correlation of phenotype with genotype and protein structure in RYR1-related disorders

  2018cites this paper
• Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches

  2018cites this paper
• Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

  2018cites this paper
• Functional analysis of RYR1 variants linked to malignant hyperthermia

  2016cites this paper
• Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort

  2016influential citation
• Genetic and molecular studies of skeletal muscle channelopathies

  2016cites this paper
• Characterisation of C-terminal RyR1 variants linked to neuromuscular disorders : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Genetics at Massey University, Manawatū, New Zealand

  2015cites this paper
• A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia.

  2015cites this paper
• Novel RYR1 missense mutations in six Chinese patients with central core disease.

  2014cites this paper
• Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis

  2014cites this paper
• Congenital (Structural) Myopathies

  2014cites this paper
• Voltage-dependent calcium signaling in muscle fibers of mouse models of neuromuscular disorders

  2013cites this paper
• Ryanodine Receptor Type 1 Gene Variants in the Malignant Hyperthermia-Susceptible Population of the United States

  2013cites this paper
• Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease

  2013cites this paper
• Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia

  2013cites this paper
• Pharmacogenetics and anesthetic drugs.

  2012cites this paper
• Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies

  2012cites this paper
• Mutated p.4894 RyR1 Function Related to Malignant Hyperthermia and Congenital Neuromuscular Disease with Uniform Type 1 Fiber (CNMDU1)

  2011cites this paper
• Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

  2011cites this paper
• Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population

  2011cites this paper
• Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum

  2011cites this paper
• The deletion of exon 3 in the cardiac ryanodine receptor is rescued by β strand switching.

  2011cites this paper
• Core myopathies.

  2011cites this paper
• King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

  2011cites this paper
• Clinical utility gene card for: Central core disease

  2011cites this paper
• Role of Amino-terminal Half of the S4-S5 Linker in Type 1 Ryanodine Receptor (RyR1) Channel Gating*

  2011cites this paper
• Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population Observation de mutations genetiques des recepteurs de la ryanodine de type 1 chez les patients canadiens atteints d'hyperthermie maligne

  2011cites this paper
• ryanodine receptor Ca 2+ ion permeation and release from the sarcoplasmic reticulum

  2010cites this paper
• Anesthetic case in a child with congenital neuromuscular disease with uniform type 1 fibers (CNMDU1)

  2010cites this paper
• Calcium homeostasis and role of ryanodine receptor type 1 (RyR1) in immune cells

  2010cites this paper
• Familial RYR 1 Mutation Associated with Mild and Severe Central Core Disease

  2010cites this paper
• Morphological diagnosis of hyperthermia-related deaths

  2010cites this paper
• Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations.

  2009cites this paper
• Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility.

  2009cites this paper
• Increasing the number of diagnostic mutations in malignant hyperthermia

  2009cites this paper
• Disease-causing mutations of calcium channels

  2008cites this paper
• A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy

  2008cites this paper
• Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation

  2008cites this paper
• Diseases associated with altered ryanodine receptor activity.

  2007cites this paper
• Malignant hyperthermia and associated conditions.

  2007cites this paper
• Peptide probe study of the role of interaction between the cytoplasmic and transmembrane domains of the ryanodine receptor in the channel regulation mechanism.

  2007cites this paper
• Malignant hyperthermia and central core disease causative mutations in Swedish patients

  2007cites this paper
• Злокачественная гипертермия Malignant hyperthermia

  2007cites this paper
• Functional effects of mutations in the skeletal muscle ryanodine receptor type 1 (RYR1) linked to malignant hyperthermia and central core disease

  2006cites this paper
• Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1

  2006cites this paper
• Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

  2006cites this paper
• Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.

  2006cites this paper
• Malignant Hyperthermia and Central Core Disease

  2006cites this paper
• Mutations in RYR1 in malignant hyperthermia and central core disease

  2006cites this paper
• Central core disease is due to RYR1 mutations in more than 90% of patients.

  2006influential citation
• Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

  2005cites this paper
• Ryanodine receptors.

  2005cites this paper
• Génétique et hyperthermie maligne, où en est-on ?

  2005cites this paper
• Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

  2005cites this paper