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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Dades bibliogràfiques
Publicat a:Clin Case Rep
Autors principals: Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Case Reports
Accés en línia: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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