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

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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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7752365/
https://ncbi.nlm.nih.gov/pubmed/33363762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3146
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