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

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Abstract(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.

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MYO7A; NEB Nebulin‐associated myopathy Usher syndrome homozygosity mapping

Citation

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

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