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

Maia, N; Soares, Ana Rita; Fortuna, Ana; Marques, Isabel; Gonçalves, Ana; Santos, Rosário; Pires, Manuel; De Brouwer, Arjan; Jorge, Paula

http://hdl.handle.net/10400.16/2552

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Resumo(s)

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.

Palavras-chave

MYO7A; NEB Nebulin‐associated myopathy Usher syndrome homozygosity mapping

URI

http://hdl.handle.net/10400.16/2552

Citação

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

Editora

John Wiley & Sons

DOI

10.1002/ccr3.3146

Coleções

CPG_SG_Artigos publicados em revistas indexadas na Pubmed/Medline

Licença CC

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