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Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study
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DOI：10.1016/j.ymgme.2025.109193.png)
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Abstract
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• A first report on hearing abilities in 36 patients with rare MEGD(H)EL syndrome. • Hearing loss is progressive. • Hearing loss appears to involve multiple sites of the auditory pathway. • Cochlear implant surgery needs to be discussed critically. • Normal hearing may be found in patients with biallelic variants in SERAC1.
Keywords:
Mitochondrial disease
Inborn metabolic disease
Hearing loss
Deafness
Cochlear implant
Hearing aids
Treatment
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