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June 01, 1999; 52 (9) Brief Communications

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene

C.M. Sue, K. Tanji, G. Hadjigeorgiou, A.L. Andreu, I. Nishino, S. Krishna, C. Bruno, M. Hirano, S. Shanske, E. Bonilla, N. Fischel-Ghodsian, S. DiMauro, R. Friedman
First published June 1, 1999, DOI: https://doi.org/10.1212/WNL.52.9.1905
C.M. Sue
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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K. Tanji
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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G. Hadjigeorgiou
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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A.L. Andreu
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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I. Nishino
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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S. Krishna
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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C. Bruno
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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M. Hirano
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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S. Shanske
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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E. Bonilla
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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N. Fischel-Ghodsian
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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S. DiMauro
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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R. Friedman
From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
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Citation
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene
C.M. Sue, K. Tanji, G. Hadjigeorgiou, A.L. Andreu, I. Nishino, S. Krishna, C. Bruno, M. Hirano, S. Shanske, E. Bonilla, N. Fischel-Ghodsian, S. DiMauro, R. Friedman
Neurology Jun 1999, 52 (9) 1905; DOI: 10.1212/WNL.52.9.1905

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Article Information

vol. 52 no. 9 1905
DOI: 
https://doi.org/10.1212/WNL.52.9.1905
PubMed: 
10371545

Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received January 6, 1999
  • Accepted in final form February 26, 1999
  • First Published June 1, 1999.

Copyright & Usage: 
© 1999

Author Disclosures

    1. C.M. Sue, MD, PhD,
    2. K. Tanji, MD, PhD,
    3. G. Hadjigeorgiou, MD, PhD,
    4. A.L. Andreu, MD,
    5. I. Nishino, MD, PhD,
    6. S. Krishna, PhD,
    7. C. Bruno, MD,
    8. M. Hirano, MD,
    9. S. Shanske, PhD,
    10. E. Bonilla, MD,
    11. N. Fischel-Ghodsian, MD,
    12. S. DiMauro, MD and
    13. R. Friedman, MD, PhD
  1. C.M. Sue, MD, PhD,
  2. K. Tanji, MD, PhD,
  3. G. Hadjigeorgiou, MD, PhD,
  4. A.L. Andreu, MD,
  5. I. Nishino, MD, PhD,
  6. S. Krishna, PhD,
  7. C. Bruno, MD,
  8. M. Hirano, MD,
  9. S. Shanske, PhD,
  10. E. Bonilla, MD,
  11. N. Fischel-Ghodsian, MD,
  12. S. DiMauro, MD and
  13. R. Friedman, MD, PhD
  1. From the Departments of Neurology (Drs. SueTanji, Hadjigeorgiou, Andreu, Nishino, Krishna, Bruno, Hirano, Shanske, Bonilla, and DiMauro) and Pathology (Dr. Bonilla), Columbia University College of Physicians and Surgeons, New York, NY; Centre d’Investigacions en Bioquimica i Biologia Molecular (Dr. Andreu), Hospitals Vall d’Hebron, Barcelona, Spain; Department of Pediatrics (Dr. Fischel-Ghodsian), Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center; and The House Ear Clinic and House Ear Institute (Dr. Friedman), Los Angeles, CA.
  1. Address correspondence and reprint requests to Dr. S. DiMauro, 4-420 College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032.
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