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Usher syndrome and Nebulinā€associated myopathy in a single patient due to variants in MYO7A and NEB

2020-07-30Journal article Open access
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dc.contributor.authorMaia, N
dc.contributor.authorSoares, Ana Rita
dc.contributor.authorFortuna, Ana
dc.contributor.authorMarques, Isabel
dc.contributor.authorGonƧalves, Ana
dc.contributor.authorSantos, RosƔrio
dc.contributor.authorPires, Manuel
dc.contributor.authorDe Brouwer, Arjan
dc.contributor.authorJorge, Paula
dc.date.accessioned2021-11-16T11:31:42Z
dc.date.available2021-11-16T11:31:42Z
dc.date.issued2020-07-30
dc.description.abstractIn a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.pt_PT
dc.description.sponsorshipThe authors express their sincere gratitude to this family. UMIB is supported by National Funds through the FCTā€”FundaĆ§Ć£o para a CiĆŖncia e a Tecnologia (Portuguese national funding agency for science, research and technology) in the framework of the UID/Multi/00215/2019 projectā€”Unit for Multidisciplinary Research in Biomedicineā€”UMIB/ICBAS/UP. Nuno Maia and Paula Jorge were awarded with Centro Hospitalar UniversitĆ”rio do Porto, 2017 PhD DEFI-CHUP and DEFIā€”2015 (145/12) grants, respectivelypt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMaia N, Soares AR, Fortuna AM, et al. Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB. Clin Case Rep. 2020;8(12):2476-2482. Published 2020 Jul 30. doi:10.1002/ccr3.3146pt_PT
dc.identifier.doi10.1002/ccr3.3146pt_PT
dc.identifier.issn2050-0904
dc.identifier.urihttp://hdl.handle.net/10400.16/2552
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherJohn Wiley & Sonspt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1002/ccr3.3146pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectMYO7A; NEBpt_PT
dc.subjectNebulinā€associated myopathypt_PT
dc.subjectUsher syndromept_PT
dc.subjecthomozygosity mappingpt_PT
dc.titleUsher syndrome and Nebulinā€associated myopathy in a single patient due to variants in MYO7A and NEBpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceEnglandpt_PT
oaire.citation.endPage2482pt_PT
oaire.citation.issue12pt_PT
oaire.citation.startPage2476pt_PT
oaire.citation.titleClinical Case Reportspt_PT
oaire.citation.volume8pt_PT
person.familyNameMaia
person.familyNameSoares
person.familyNameFortuna
person.familyNameGonƧalves
person.familyNameSantos
person.familyNamePires
person.familyNamede Brouwer
person.familyNameJorge
person.givenNameNuno
person.givenNameAna Rita
person.givenNameAna
person.givenNameAna
person.givenNameRosƔrio
person.givenNameManuel
person.givenNameArjan
person.givenNamePaula
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