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

Clinical Case Reports (2020) 8(12) 2476-2482
DOI: 10.1002/ccr3.3146
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Abstract

In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A and NEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.

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Maia, N., Soares, A. R., Fortuna, A. M., Marques, I., Gonçalves, A., Santos, R., … Jorge, P. (2020). Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB. Clinical Case Reports, 8(12), 2476–2482. https://doi.org/10.1002/ccr3.3146

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