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

Maia, NSoares, Ana RitaFortuna, AnaMarques, IsabelGonçalves, AnaSantos, RosárioPires, ManuelDe Brouwer, ArjanJorge, Paula2021-11-162021-11-162020-07-30Maia 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/ccr3.31462050-0904http://hdl.handle.net/10400.16/2552In 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.engMYO7A; NEBNebulin‐associated myopathyUsher syndromehomozygosity mappingUsher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEBjournal article10.1002/ccr3.3146