Table 1.
Mutation | Location of mutation in motor domain | Phenotype of patientsa |
---|---|---|
Myo1c R156W | Immediately preceding switch 1 | Bilateral sensorineural hearing loss |
Myo1c V252A | In helix K in the upper 50 kDa domain | Moderate bilateral sensorineural hearing loss |
Myo1c T380M | In helix O of transducer near switch 2 | Progressive bilateral sensorineural hearing loss |
aData from Zadro et al. 2009 [16]