Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy ; volume:81 ; number:S 01 ; year:2023 ; 01
Konferenz: SBN Conference 2022; 2022-11-09; Expo United Curitiba
Arquivos de neuro-psiquiatria ; 81, Heft S 01 (2023), 01
- Beteiligte Personen und Organisationen
-
Oliveira, Thaís de Almeida Fonseca
Thiersch, Laura Maria Silva
Santana, Renan Guimaraes
David, Nathalia Jamille Moreira Nascimento
Carneiro, Ana Cristina Nascimento Dias
Loutfi, Karina Soares
Barbosa, André Vinicius Soares
Torres, Bruna Ribeiro
Diniz, Ana Carolina Cardoso
- DOI
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10.1055/s-0043-1774514
- URN
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urn:nbn:de:101:1-2023110211163467873185
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:51 MESZ
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Beteiligte
- Oliveira, Thaís de Almeida Fonseca
- Thiersch, Laura Maria Silva
- Santana, Renan Guimaraes
- David, Nathalia Jamille Moreira Nascimento
- Carneiro, Ana Cristina Nascimento Dias
- Loutfi, Karina Soares
- Barbosa, André Vinicius Soares
- Torres, Bruna Ribeiro
- Diniz, Ana Carolina Cardoso
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Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
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