ArticleGenetics research international2012
Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient.
Article in Genetics research international, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The Role of Primary Mitochondrial Disorders in Hearing Impairment: An Overview.Medicina (Kaunas, Lithuania) · 2023Pooled it
- Mitochondrial Disease and Hearing Loss in Children: A Systematic Review.The Laryngoscope · 2022Pooled it
- Ischemic Stroke After Cochlear Implantation in a Patient With an Undiagnosed Mitochondrial Disorder.Cureus · 2025Article
- Analysis and identification of mitochondria-related genes associated with age-related hearing loss.BMC genomics · 2025Article
- Cochlear Implantation for Isoleucyl-tRNA Synthetase Mutation-Associated Mitochondrial Disease: A Case Report.Cureus · 2024Article
- Bilateral cochlear implants in a MELAS patient.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024Article
- Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.Neurogenetics · 2024Review
- Early-Onset Hearing Loss in Mouse Models of Alzheimer's Disease and Increased DNA Damage in the Cochlea.Aging biology · 2024Article
- Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.Molecular genetics and metabolism · 2022Article
- Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.Medicina (Kaunas, Lithuania) · 2022Review
- Long-Term Progression and Rapid Decline in Hearing Loss in Patients with a Point Mutation at Nucleotide 3243 of the Mitochondrial DNA.Life (Basel, Switzerland) · 2022Article
- Cochlear Implantation in Patients with Mitochondrial Gene Mutation: Decline in Speech Perception in Retrospective Long-Term Follow-Up Study.Life (Basel, Switzerland) · 2022Article
- Cochlear Implantation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome: Case Presentation.The journal of international advanced otology · 2022Article
- Temporal bone histopathology in MELAS syndrome.Laryngoscope investigative otolaryngology · 2020Article
- Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.Journal of cellular and molecular medicine · 2017Article
- Arginine and citrulline for the treatment of MELAS syndrome.Journal of inborn errors of metabolism and screening · 2017Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hearing impairment is common in patients with mitochondrial disorders, affecting over half of all cases at some time in the course of the disease. In some patients, deafness is only part of a multisystem disorder. By contrast, there are also a number of "pure" mitochondrial deafness disorders, the most common probably being maternally inherited. We retrospectively analyzed the last 60 genetically confirmed mitochondrial disorders diagnosed in our Department: 28 had bilateral sensorineural hearing loss, whereas 32 didn't present ear's abnormalities, without difference about sex and age of onset between each single group of diseases. We reported also a case of MELAS patient with sensorineural hearing loss, in which cochlear implantation greatly contributed to the patient's quality of life. Our study suggests that sensorineural hearing loss is an important feature in mitochondrial disorders and indicated that cochlear implantation can be recommended for patients with MELAS syndrome and others mitochondrial disorders.
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Registered trials
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