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Clinical utility gene card for McArdle disease.

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dc.contributor.authorTaylor, Rhonda L
dc.contributor.authorDavis, Mark
dc.contributor.authorTurner, Emma
dc.contributor.authorBrull, Astrid
dc.contributor.authorPinos, Tomas
dc.contributor.authorCabrera, Macarena
dc.contributor.authorNowak, Kristen J
dc.date.accessioned2023-01-25T10:03:04Z
dc.date.available2023-01-25T10:03:04Z
dc.date.issued2018-01-25
dc.description.abstractName of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phosphoryalse (PYGM). OMIM# of the gene(s) #608455.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in the PYGM gene(s) in diagnostic, predictive and prenatal settings and for risk assessment in relatives.
dc.description.versionSi
dc.identifier.citationTaylor RL, Davis M, Turner E, Brull A, Pinos T, Cabrera M,et al. Clinical utility gene card for McArdle disease. Eur J Hum Genet. 2018 May;26(5):758-764.
dc.identifier.doi10.1038/s41431-017-0070-6
dc.identifier.essn1476-5438
dc.identifier.pmcPMC5945672
dc.identifier.pmid29371640
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945672/pdf
dc.identifier.unpaywallURLhttps://www.nature.com/articles/s41431-017-0070-6.pdf
dc.identifier.urihttp://hdl.handle.net/10668/12052
dc.issue.number5
dc.journal.titleEuropean journal of human genetics : EJHG
dc.journal.titleabbreviationEur J Hum Genet
dc.language.isoen
dc.organizationInstituto de Biomedicina de Sevilla-IBIS
dc.organizationHospital Universitario Virgen del Rocío
dc.page.number758-764
dc.provenanceRealizada la curación de contenido 03/04/2025
dc.publisherNature Publishing Group
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.relation.publisherversionhttps://doi.org/10.1038/s41431-017-0070-6
dc.rights.accessRightsRestricted Access
dc.subjectGenetic testing
dc.subjectNeuromuscular disease
dc.subject.decsEnfermedad del almacenamiento de glucógeno tipo V
dc.subject.decsGenes
dc.subject.decsDioscorea
dc.subject.decsBases de datos genéticas
dc.subject.decsEnfermedad
dc.subject.decsADN
dc.subject.decsRevisión
dc.subject.decsGlucógeno
dc.subject.decsCromosomas
dc.subject.decsMúsculos
dc.subject.meshDisorders of Sex Development
dc.subject.meshGenetic Testing
dc.subject.meshGlycogen Storage Disease Type V
dc.subject.meshHumans
dc.subject.meshMuscle, Skeletal
dc.subject.meshMutation
dc.titleClinical utility gene card for McArdle disease.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number26
dspace.entity.typePublication

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