Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

Detalhes bibliográficos
Autor(a) principal: Maia, N
Data de Publicação: 2020
Outros Autores: Soares, Ana Rita, Fortuna, Ana, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Pires, Manuel, De Brouwer, Arjan, Jorge, Paula
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.16/2552
Resumo: In 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.
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spelling Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEBMYO7A; NEBNebulin‐associated myopathyUsher syndromehomozygosity mappingIn 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.The authors express their sincere gratitude to this family. UMIB is supported by National Funds through the FCT—Fundação para a Ciência e a Tecnologia (Portuguese national funding agency for science, research and technology) in the framework of the UID/Multi/00215/2019 project—Unit for Multidisciplinary Research in Biomedicine—UMIB/ICBAS/UP. Nuno Maia and Paula Jorge were awarded with Centro Hospitalar Universitário do Porto, 2017 PhD DEFI-CHUP and DEFI—2015 (145/12) grants, respectivelyJohn Wiley & SonsRepositório Científico do Centro Hospitalar Universitário de Santo AntónioMaia, NSoares, Ana RitaFortuna, AnaMarques, IsabelGonçalves, AnaSantos, RosárioPires, ManuelDe Brouwer, ArjanJorge, Paula2021-11-16T11:31:42Z2020-07-302020-07-30T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2552engMaia 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/ccr3.31462050-090410.1002/ccr3.3146info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T11:01:05Zoai:repositorio.chporto.pt:10400.16/2552Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:45.335496Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
spellingShingle Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
Maia, N
MYO7A; NEB
Nebulin‐associated myopathy
Usher syndrome
homozygosity mapping
title_short Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title_full Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title_fullStr Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title_full_unstemmed Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
title_sort Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
author Maia, N
author_facet Maia, N
Soares, Ana Rita
Fortuna, Ana
Marques, Isabel
Gonçalves, Ana
Santos, Rosário
Pires, Manuel
De Brouwer, Arjan
Jorge, Paula
author_role author
author2 Soares, Ana Rita
Fortuna, Ana
Marques, Isabel
Gonçalves, Ana
Santos, Rosário
Pires, Manuel
De Brouwer, Arjan
Jorge, Paula
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Centro Hospitalar Universitário de Santo António
dc.contributor.author.fl_str_mv Maia, N
Soares, Ana Rita
Fortuna, Ana
Marques, Isabel
Gonçalves, Ana
Santos, Rosário
Pires, Manuel
De Brouwer, Arjan
Jorge, Paula
dc.subject.por.fl_str_mv MYO7A; NEB
Nebulin‐associated myopathy
Usher syndrome
homozygosity mapping
topic MYO7A; NEB
Nebulin‐associated myopathy
Usher syndrome
homozygosity mapping
description In 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.
publishDate 2020
dc.date.none.fl_str_mv 2020-07-30
2020-07-30T00:00:00Z
2021-11-16T11:31:42Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.16/2552
url http://hdl.handle.net/10400.16/2552
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Maia 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/ccr3.3146
2050-0904
10.1002/ccr3.3146
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons
publisher.none.fl_str_mv John Wiley & Sons
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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