Cargando…

Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy

Malignant hyperthermia (MH), a rare autosomal dominant pharmacogenetic disorder of skeletal muscle calcium regulation, is triggered by sevoflurane in susceptible individuals. We report a Korean having MH with multi-minicore myopathy functionally supported by RYR1-mediated intracellular Ca(2+) releas...

Descripción completa

Detalles Bibliográficos
Autores principales:	Moon, Young Jae, Park, Joonhong, Kim, Jung Ryul, Lee, Seung Yeob, Lee, Jaehyeon, Cho, Yong Gon, Kim, Dal Sik
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601532/ https://www.ncbi.nlm.nih.gov/pubmed/36292611 http://dx.doi.org/10.3390/genes13101726

Ejemplares similares

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
por: Fusto, Aurora, et al.
Publicado: (2022)

Accuracy Validation of the Elecsys HBsAg II Quant Assay and Its Utility in Resolving Equivocal Qualitative HBsAg Results
por: Lee, Jaehyeon, et al.
Publicado: (2023)

Multi-minicore Disease
por: Jungbluth, Heinz
Publicado: (2007)

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency
por: Kim, Minsun, et al.
Publicado: (2022)

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
por: Boyden, Steven E., et al.
Publicado: (2012)

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
por: Estañ, María Cristina, et al.
Publicado: (2019)

Pathological Relevance of Post-Translationally Modified Alpha-Synuclein (pSer87, pSer129, nTyr39) in Idiopathic Parkinson’s Disease and Multiple System Atrophy
por: Sonustun, Berkiye, et al.
Publicado: (2022)

A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy
por: Jeong, Seul-Ki, et al.
Publicado: (2008)

RYR1 causing distal myopathy
por: Laughlin, Ruple S., et al.
Publicado: (2017)

A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores
por: Chen, Lei, et al.
Publicado: (2021)

Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Classifications in Malignant Hyperthermia Susceptibility
por: Johnston, Jennifer J., et al.
Publicado: (2021)

Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy
por: Jeong, Ha-Neul, et al.
Publicado: (2018)

Comparative Evaluation of Three Immunoassays for the Simultaneous Detection of Clostridioides difficile Glutamate Dehydrogenase and Toxin A/B
por: Kim, Namsu, et al.
Publicado: (2022)

Evaluation of Allplex Respiratory Panel 1/2/3 Multiplex Real-Time PCR Assays for the Detection of Respiratory Viruses with Influenza A Virus subtyping
por: Lee, Jaehyeon, et al.
Publicado: (2018)

Passive immunotherapy of tauopathy targeting pSer413-tau: a pilot study in mice
por: Umeda, Tomohiro, et al.
Publicado: (2015)

Ivacaftor in Omani children with cystic fibrosis caused by p.Ser549Arg CFTR mutation
por: Al Oraimi, Sumaya, et al.
Publicado: (2022)

Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
por: Rojas Malaga, Diana, et al.
Publicado: (2019)

Newly discovered hepatitis C virus minicores circulate in human blood
por: Eng, Francis J., et al.
Publicado: (2017)

Functional analysis of RYR1 variants linked to malignant hyperthermia
por: Stephens, Jeremy, et al.
Publicado: (2016)

578. Performance of acid-fast stain, real-time PCR, and Xpert MTB/RIF in a bronchial washing for the Rapid Diagnosis of Mycobacterial infection in real-world
por: Hwang, Joo-Hee, et al.
Publicado: (2023)

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role
por: Andrade, Pamela V., et al.
Publicado: (2023)

Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition
por: Koivuluoma, Susanna, et al.
Publicado: (2019)

MLL-AF4 and a murinized pSer-variant thereof are turning on the nucleolar stress pathway
por: Siemund, Anna Lena, et al.
Publicado: (2022)

The female syndecan-4(−/−) heart has smaller cardiomyocytes, augmented insulin/pSer473-Akt/pSer9-GSK-3β signaling, and lowered SCOP, pThr308-Akt/Akt and GLUT4 levels
por: Støle, Thea Parsberg, et al.
Publicado: (2022)

Genotype-phenotype correlations in recessive RYR1-related myopathies
por: Amburgey, Kimberly, et al.
Publicado: (2013)

Motor function performance in individuals with RYR1‐related myopathies
por: Witherspoon, Jessica W., et al.
Publicado: (2019)

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
por: Knuiman, G. J., et al.
Publicado: (2019)

Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis
por: van den Bersselaar, Luuk R, et al.
Publicado: (2022)

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus
por: Kobayashi, Yu, et al.
Publicado: (2023)

A Rare Case of Severe Congenital RYR1-Associated Myopathy
por: Laforgia, Nicola, et al.
Publicado: (2018)

Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies
por: Mauri, Eleonora, et al.
Publicado: (2021)

Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy
por: Chang, Xingzhi, et al.
Publicado: (2022)

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility
por: van den Bersselaar, Luuk R., et al.
Publicado: (2023)

SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr
por: Killen, Stacy AS, et al.
Publicado: (2010)

The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy
por: Bansagi, Boglarka, et al.
Publicado: (2015)

COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study
por: Tong, Daike, et al.
Publicado: (2022)

Clinical Evaluation of BioFire COVID-19 Test, BioFire Respiratory Panel 2.1, and Cepheid Xpert Xpress SARS-CoV-2 Assays for Sample-to-Answer Detection of SARS-CoV-2
por: Park, Joonhong, et al.
Publicado: (2023)

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families
por: Zullo, Alberto, et al.
Publicado: (2019)

Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies
por: Todd, Joshua J., et al.
Publicado: (2020)

Atypical symptoms of malignant hyperthermia: A rare causative mutation in the RYR1 gene
por: Wang, Qiao Ling, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_mbigfe682lq5qaj61ha57qov3t