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• W1990326678 abstract "Purpose: Hearing loss is a common clinical feature in classic mitochondrial syndromes. The purpose of this study was to evaluate the diverse molecular etiologies and natural history of hearing loss in multi-systemic mitochondrial cytopathies and the possible correlation between degree of hearing loss and neurological phenotype.Methods: In this retrospective study we evaluated the clinical features and molecular bases of hearing loss associated with multi-systemic mitochondrial cytopathy. Forty-five patients with sensorineural hearing loss and definite diagnosis of mitochondrial cytopathy according to the published diagnostic criteria were studied.Results: The sensorineural hearing loss was progressive and for the most part symmetrical with involvement of the higher frequencies. Both cochlear and retrocochlear involvement were found in this cohort. No correlation was found between the degree of hearing loss and the number and severity of neurological manifestations. Deleterious mtDNA point mutations of undisputed pathogenicity were identified in 18 patients. The A3243G mutation was the most frequently encountered among this group. MtDNA depletion, over-replication, and multiple deletions were found in further 11 cases.Conclusion: This study reveals an expanding spectrum of mtDNA abnormalities associated with hearing loss. No correlation was found between the degrees of hearing loss and the severity of neurological manifestations." @default.
• W1990326678 created "2016-06-24" @default.
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• W1990326678 date "2006-10-01" @default.
• W1990326678 modified "2023-10-11" @default.
• W1990326678 title "Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy" @default.
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• W1990326678 doi "https://doi.org/10.1097/01.gim.0000237781.10594.d1" @default.
• W1990326678 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17079881" @default.
• W1990326678 hasPublicationYear "2006" @default.
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