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

Abstract

Abstract 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.

Keywords

• homozygosity mapping
• MYO7A
• NEB
• Nebulin‐associated myopathy
• Usher syndrome