Compound Heterozygous

Humans Ryanodine Receptor Calcium Release Channel / genetics Child Heterozygote Female Male Mutation Myotonia Congenita / genetics Phenotype Genetic Association Studies Pedigree Muscular Diseases / genetics Genes, Recessive
RYR1-related myopathies congenital myopathy ryanodine receptor 1 (RYR1) splice variant whole genome sequencing (WGS)

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
09 Oct 2024
Historique:
received: 31 07 2024
revised: 16 09 2024
accepted: 02 10 2024
medline: 16 10 2024
pubmed: 16 10 2024
entrez: 16 10 2024
Statut: epublish

Résumé

Pathogenic variants in the ryanodine receptor 1 (

Identifiants

DOI: 10.3390/ijms251910867 PMID: 39409197
pubmed: 39409197
pii: ijms251910867
doi: 10.3390/ijms251910867
pii:
doi:

Substances chimiques

Ryanodine Receptor Calcium Release Channel 0
RYR1 protein, human 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Dr. Georg E. und Marianne Kosing-Stiftung
ID : no number
Organisme : Deutsche Forschungsgemeinschaft

Déclaration de conflit d'intérêts

The authors declare no conflicts of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

Auteurs

Sören Janßen (S)

Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.

Leoni S Erbe (LS)

Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.

Moritz Kneifel (M)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.

Matthias Vorgerd (M)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
ORCID: 0000-0002-1782-4642

Kristina Döring (K)

Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.

Krzysztof P Lubieniecki (KP)

Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.

Joanna M Lubieniecka (JM)

Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.

Wanda M Gerding (WM)

Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
ORCID: 0000-0002-3858-9872

Nicolas Casadei (N)

Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany.
NGS Competence Center Tübingen, 72076 Tübingen, Germany.
ORCID: 0000-0003-2209-0580

Anne-Katrin Güttsches (AK)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
ORCID: 0000-0002-4017-940X

Christoph Heyer (C)

Institute for Pediatric Radiology, Katholisches Klinikum Bochum, Ruhr-University Bochum, 44791 Bochum, Germany.

Thomas Lücke (T)

Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.

Hoa Huu Phuc Nguyen (HHP)

Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.
ORCID: 0000-0001-6139-788X

Cornelia Köhler (C)

Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.

Sabine Hoffjan (S)

Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Compound Heterozygous
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux calciques › Canal de libération du calcium du récepteur à la ryanodine › Compound Heterozygous
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Compound Heterozygous
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Compound Heterozygous
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Compound Heterozygous
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Myotonie congénitale › Compound Heterozygous
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Compound Heterozygous
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Compound Heterozygous
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Compound Heterozygous
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › Compound Heterozygous
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs › Compound Heterozygous