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Pathogenic mtDNA va...
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
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- Elander, Johanna (författare)
- Lund University,Lunds universitet,Öron-, näs- och halssjukdomar, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Otorhinolaryngology (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- McCormick, Elizabeth M (författare)
- The Children's Hospital of Philadelphia
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- Värendh, Maria (författare)
- Lund University,Lunds universitet,Öron-, näs- och halssjukdomar, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Otorhinolaryngology (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Stenfeldt, Karin (författare)
- Lund University,Lunds universitet,Logopedi, foniatri och audiologi,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Öron-, näs- och halssjukdomar, Lund,Institutionen för kliniska vetenskaper, Lund,Logopedics, Phoniatrics and Audiology,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Otorhinolaryngology (Lund),Department of Clinical Sciences, Lund,Skåne University Hospital
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- Ganetzky, Rebecca D (författare)
- The Children's Hospital of Philadelphia,University of Pennsylvania
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- Goldstein, Amy (författare)
- University of Pennsylvania,The Children's Hospital of Philadelphia
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- Zolkipli-Cunningham, Zarazuela (författare)
- University of Pennsylvania,The Children's Hospital of Philadelphia
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- MacMullen, Laura E (författare)
- The Children's Hospital of Philadelphia
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- Xiao, Rui (författare)
- The Children's Hospital of Philadelphia
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- Falk, Marni J (författare)
- The Children's Hospital of Philadelphia,University of Pennsylvania
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- Ehinger, Johannes K (författare)
- Lund University,Lunds universitet,Öron-, näs- och halssjukdomar, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Mitokondriell Medicin,Forskargrupper vid Lunds universitet,Otorhinolaryngology (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Mitochondrial Medicine,Lund University Research Groups,Skåne University Hospital
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(creator_code:org_t)
- Elsevier BV, 2022
- 2022
- Engelska 9 s.
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Ingår i: Molecular Genetics and Metabolism. - : Elsevier BV. - 1096-7192. ; 137:3, s. 230-238
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- In this retrospective cohort study of 193 consecutive subjects with primary mitochondrial disease (PMD) seen at the Children's Hospital of Philadelphia Mitochondrial Medicine Frontier Program, we assessed prevalence, severity, and time of onset of sensorineural hearing loss (SNHL) for PMD cases with different genetic etiologies. Subjects were grouped by genetic diagnosis: mitochondrial DNA (mtDNA) pathogenic variants, single large-scale mtDNA deletions (SLSMD), or nuclear DNA (nDNA) pathogenic variants. SNHL was audiometrically confirmed in 27% of PMD subjects (20% in mtDNA pathogenic variants, 58% in SLSMD and 25% in nDNA pathogenic variants). SLSMD had the highest odds ratio for SNHL. SNHL onset was post-lingual in 79% of PMD cases, interestingly including all cases with mtDNA pathogenic variants and SLSMD, which was significantly different from PMD cases caused by nDNA pathogenic variants. SNHL onset during school age was predominant in this patient population. Regular audiologic assessment is important for PMD patients, and PMD of mtDNA etiology should be considered as a differential diagnosis in pediatric patients and young adults with post-lingual SNHL onset, particularly in the setting of multi-system clinical involvement. Pathogenic mtDNA variants and SLSMD are less likely etiologies in subjects with congenital, pre-lingual onset SNHL.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Young Adult
- Humans
- Child
- DNA, Mitochondrial/genetics
- Retrospective Studies
- Mitochondrial Diseases/complications
- Hearing Loss, Sensorineural/genetics
- Mitochondria/genetics
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Elander, Johanna
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McCormick, Eliza ...
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Värendh, Maria
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Stenfeldt, Karin
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Ganetzky, Rebecc ...
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Goldstein, Amy
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visa fler...
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Zolkipli-Cunning ...
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MacMullen, Laura ...
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Xiao, Rui
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Falk, Marni J
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Ehinger, Johanne ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Oto rhino laryng ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
- Artiklar i publikationen
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Molecular Geneti ...
- Av lärosätet
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Lunds universitet