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  • Title: High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene.
    Author: Abe S, Nagano M, Nishio SY, Kumakawa K, Usami S.
    Journal: Otol Neurotol; 2014 Jul; 35(6):1087-90. PubMed ID: 24770403.
    Abstract:
    OBJECTIVE: To clarify the responsible gene for a family associated with hearing loss but having no well-known mitochondrial mutations. SUBJECTS: A Japanese family showing late-onset, progressive, and ski-sloping sensorineural hearing loss. RESULTS: Whole mitochondrial genome sequencing identified the 1673T>C mutation, a novel mitochondrial DNA mutation in the 16S ribosomal RNA gene. CONCLUSION: Whole mitochondrial genome sequencing is a powerful tool to identify the responsible gene for plausible mitochondrially inherited families. This is additional evidence that mitochondrial gene mutations may cause late-onset, progressive, and ski-sloping sensorineural hearing loss.
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