G.P.7.02 Multicenter study on occurrence of auditory impairment in facioscapulohumeral muscular dystrophy

A multicenter study on the prevalence an

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

✍ Montserrat Rodríguez-Ballesteros; Raúl Reynoso; Margarita Olarte; Manuela Villam 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 242 KB 👁 1 views

## Communicated by Dvorah Abeliovich Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been identified to date. One of these, OTOF, encodes otoferlin, a membrane-anchored calcium-binding protein t