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Volumn 23, Issue 1, 1998, Pages 3-8

Mitochondrial inherited hearing loss

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0031879685     PISSN: 03077772     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2273.1998.00089.x     Document Type: Review
Times cited : (9)

References (49)
  • 1
    • 78651126508 scopus 로고
    • A case of severe hypermetabolism of non-thyroid origin with defect in the maintenance of mitochondrial respiratory control. A correlated, clinical, biochemical and morphological study
    • LUFT R., IKKOS D., PALMIERI G., ERNSTER L. & AFZELIUS B. (1962) A case of severe hypermetabolism of non-thyroid origin with defect in the maintenance of mitochondrial respiratory control. A correlated, clinical, biochemical and morphological study. J. Clin. Invest. 41, 1776-1804
    • (1962) J. Clin. Invest. , vol.41 , pp. 1776-1804
    • Luft, R.1    Ikkos, D.2    Palmieri, G.3    Ernster, L.4    Afzelius, B.5
  • 2
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • WALLACE D.C., SINGH G., LOTT M.T. et al. (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242, 1427-1430.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 3
    • 0023883150 scopus 로고
    • Deletions of mitochondrial DNA in patients with mitochondrial myopathies
    • HOLT I.J., HARDING A.E. & MOORGAN-HUGHES J.A. (1988) Deletions of mitochondrial DNA in patients with mitochondrial myopathies. Nature 331, 717-719
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Moorgan-Hughes, J.A.3
  • 4
    • 0026519547 scopus 로고
    • Sensorineural deafness inherited as a tissue specific mitochondrial defect
    • JABER L., SHOHAT M., BU X. et al. (1992) Sensorineural deafness inherited as a tissue specific mitochondrial defect. J. Med. Genet. 29, 86-90
    • (1992) J. Med. Genet. , vol.29 , pp. 86-90
    • Jaber, L.1    Shohat, M.2    Bu, X.3
  • 5
    • 21144473038 scopus 로고
    • Loss of mitochondrium during fertilization
    • LAMBERT C.C. & BATAGGLIA D.E. (1993) Loss of mitochondrium during fertilization. Zoo. Sci. 10, 31-37
    • (1993) Zoo. Sci. , vol.10 , pp. 31-37
    • Lambert, C.C.1    Batagglia, D.E.2
  • 6
    • 0028901364 scopus 로고
    • Mitochondrial genetics and deafness
    • REARDON W. & HARDING A.E. (1995) Mitochondrial genetics and deafness. J. Audiol. Med. 4, 40-51
    • (1995) J. Audiol. Med. , vol.4 , pp. 40-51
    • Reardon, W.1    Harding, A.E.2
  • 10
    • 0028318758 scopus 로고
    • Non-Mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss
    • GOLD M. & RAPIN I. (1994) Non-Mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss. Int. J. Ped. Otorhinolaryngol. 30, 91-104
    • (1994) Int. J. Ped. Otorhinolaryngol. , vol.30 , pp. 91-104
    • Gold, M.1    Rapin, I.2
  • 11
    • 0021143782 scopus 로고    scopus 로고
    • Mitochondrial myopathy encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
    • PAVLAKIS S.G., PHILLIPS P.C., DI MAURO S., DE VITO D.C. & ROWLAND L.P. Mitochondrial myopathy encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann. Neurol. 16, 481-488
    • Ann. Neurol. , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    Di Mauro, S.3    De Vito, D.C.4    Rowland, L.P.5
  • 12
  • 16
    • 0028888396 scopus 로고
    • Maternally inherited diabetes mellitus: The role of mitochondrial DNA defects
    • ALCOLADO J.C. & THOMAS A.W. (1995) Maternally inherited diabetes mellitus: the role of mitochondrial DNA defects. Diabet. Med. 12, 102-108
    • (1995) Diabet. Med. , vol.12 , pp. 102-108
    • Alcolado, J.C.1    Thomas, A.W.2
  • 19
    • 0030059395 scopus 로고    scopus 로고
    • Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome
    • OSHIMA T., UEDA N., IKEDA K., ABE K. & TAKASAKA T. (1996) Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome. Laryngoscope 106, 43-48
    • (1996) Laryngoscope , vol.106 , pp. 43-48
    • Oshima, T.1    Ueda, N.2    Ikeda, K.3    Abe, K.4    Takasaka, T.5
  • 21
    • 0026004614 scopus 로고
    • A new mutation with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes
    • GOTO Y., NONAKA I. & HORAI S. (1991) A new mutation with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes. Biochem. Biophys. Acta 1097, 238-240
    • (1991) Biochem. Biophys. Acta , vol.1097 , pp. 238-240
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 23
    • 0025811391 scopus 로고
    • Mitochondrial dysfunction in multiple symmetrical lipomatosis
    • BERCOVIC S.F., ANDERMANN F., SHOUBRIDGE E.A. et al. (1991) Mitochondrial dysfunction in multiple symmetrical lipomatosis. Ann. Neurol. 29, 566-569
    • (1991) Ann. Neurol. , vol.29 , pp. 566-569
    • Bercovic, S.F.1    Andermann, F.2    Shoubridge, E.A.3
  • 25
    • 0027288377 scopus 로고
    • (8344) mutation: Clinical phenotype and relation to proportion of mutant mitochondrial DNA
    • (8344) mutation: clinical phenotype and relation to proportion of mutant mitochondrial DNA. Brain 116, 617-632
    • (1993) Brain , vol.116 , pp. 617-632
    • Hammans, S.1    Sweeney, M.2    Brockington, M.3
  • 28
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • ZEVIANI M., BRESOLIN N. & GELLERA C. (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339, 309-311
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Bresolin, N.2    Gellera, C.3
  • 29
    • 0024499802 scopus 로고
    • Duplications of mitochondrial DNA in mitochondrial myopathy
    • POULTON J., DEADMAN M. & GARDNER R. (1989) Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet i, 236-240
    • (1989) Lancet , vol.1 , pp. 236-240
    • Poulton, J.1    Deadman, M.2    Gardner, R.3
  • 30
    • 0029119782 scopus 로고
    • Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA-ser (UCN) gene
    • TIRANTI V., CHARLOT P., CARELLA F. et al. (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA-ser (UCN) gene. Hum. Mol. Genet. 4, 1421-1427
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1421-1427
    • Tiranti, V.1    Charlot, P.2    Carella, F.3
  • 31
    • 7344244353 scopus 로고    scopus 로고
    • Early onset maternal inherited hearing loss with late onset neurological symptoms present in a three generation Dutch family
    • Paper delivered Milan, 11 13 October 1996
    • ENSINK R.J.H., MARRES H.A.M. & CREMERS C.W.R.J. (1996) Early onset maternal inherited hearing loss with late onset neurological symptoms present in a three generation Dutch family. Paper delivered at the Second Workshop, European Working Group on Genetics of Hearing Impairment. Milan, 11 13 October 1996
    • (1996) Second Workshop, European Working Group on Genetics of Hearing Impairment
    • Ensink, R.J.H.1    Marres, H.A.M.2    Cremers, C.W.R.J.3
  • 32
    • 0025980075 scopus 로고
    • Genetic aspects of antibiotic induced deafness: Mitochondrial inheritance
    • HU D., QIU W.O. WU B.T. et al. (1991) Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J. Med. Genet. 28, 79-83
    • (1991) J. Med. Genet. , vol.28 , pp. 79-83
    • Hu, D.1    Qiu, W.O.2    Wu, B.T.3
  • 33
    • 0024360825 scopus 로고
    • Unique inheritance of streptomycin induced deafness
    • HIGASHI, K. (1989) Unique inheritance of streptomycin induced deafness. Clin. Genet. 35, 433-436
    • (1989) Clin. Genet. , vol.35 , pp. 433-436
    • Higashi, K.1
  • 34
    • 0029832209 scopus 로고    scopus 로고
    • Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides
    • BRAVERMAN I., JABER L., LEVI H. et al. (1996) Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides. Arch. Otolaryngol. Head Neck Surgery 122, 1001-1004
    • (1996) Arch. Otolaryngol. Head Neck Surgery , vol.122 , pp. 1001-1004
    • Braverman, I.1    Jaber, L.2    Levi, H.3
  • 35
    • 0027226069 scopus 로고
    • Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
    • PREZANT T.R., AGAPIAN J.V., BOHLMAN M.C. et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4, 289-294
    • (1993) Nat. Genet. , vol.4 , pp. 289-294
    • Prezant, T.R.1    Agapian, J.V.2    Bohlman, M.C.3
  • 36
    • 0029916599 scopus 로고    scopus 로고
    • Non-syndromic deafness associated with a mutation in the mitochondrial 12S ribosomal RNA gene in a large Zairean family
    • MATTHIJS G., CLAES S., LONGO-MBENZA B. & CASSIMANN J.J. (1996) Non-syndromic deafness associated with a mutation in the mitochondrial 12S ribosomal RNA gene in a large Zairean family. Eur. J. Hum. Genet. 4(1), 46-51
    • (1996) Eur. J. Hum. Genet. , vol.4 , Issue.1 , pp. 46-51
    • Matthijs, G.1    Claes, S.2    Longo-Mbenza, B.3    Cassimann, J.J.4
  • 37
    • 0343852695 scopus 로고    scopus 로고
    • Two large Spanish pedigrees with non-syndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene. Evidence of heteroplasmy
    • EL-SCHAWAWI M., LOPEZ DE MUNAIN A., SARRAZIN A.M. et al. (1997) Two large Spanish pedigrees with non-syndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene. Evidence of heteroplasmy. Neurology 48, 453-456
    • (1997) Neurology , vol.48 , pp. 453-456
    • El-Schawawi, M.1    Lopez De Munain, A.2    Sarrazin, A.M.3
  • 38
    • 0028102480 scopus 로고
    • Bilateral sensorineural hearing loss in members of a maternal linkage with a mitochondrial point mutation
    • VERNHAM G.A., REID F.M., RUNDLE P.A. & JACOBS H.T. (1994) Bilateral sensorineural hearing loss in members of a maternal linkage with a mitochondrial point mutation. Clin. Otolaryngol. 19, 314-317
    • (1994) Clin. Otolaryngol. , vol.19 , pp. 314-317
    • Vernham, G.A.1    Reid, F.M.2    Rundle, P.A.3    Jacobs, H.T.4
  • 39
    • 0028094531 scopus 로고
    • Complete mt-DNA sequence of a patient in a maternal pedigree with sensorineural deafness
    • REID F.M., VERNHAM G.A. & JACOBS H.T. (1994) Complete mt-DNA sequence of a patient in a maternal pedigree with sensorineural deafness. Hum. Mol. Genet. 3, 1435-1436
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1435-1436
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 41
    • 0024541837 scopus 로고
    • Mitochondrial DNA mutations as an important factor to ageing and degenerative disease
    • LINNANE A., MARZUKI S., OTAWA T. & TANAKA M. (1989) Mitochondrial DNA mutations as an important factor to ageing and degenerative disease. Lancet 25, 642-645
    • (1989) Lancet , vol.25 , pp. 642-645
    • Linnane, A.1    Marzuki, S.2    Otawa, T.3    Tanaka, M.4
  • 42
    • 0027016008 scopus 로고
    • Growing old: The most common mitochondrial disease of all
    • HARDING A.E. (1992) Growing old: the most common mitochondrial disease of all. Nat. Genet. 2, 251-252
    • (1992) Nat. Genet. , vol.2 , pp. 251-252
    • Harding, A.E.1
  • 43
    • 0029945725 scopus 로고    scopus 로고
    • Association of mitochondrial DNA deletions and cochlear pathology: A molecular biologic tool
    • SEIDMAN M.D. BAI U., KHAN M.J. et al. (1996) Association of mitochondrial DNA deletions and cochlear pathology: a molecular biologic tool. Laryngoscope 106, 777-783
    • (1996) Laryngoscope , vol.106 , pp. 777-783
    • Seidman, M.D.1    Bai, U.2    Khan, M.J.3
  • 44
    • 0026348361 scopus 로고
    • Audiological characteristics in a family with mitochondrial disorder
    • ELVERLAND H.H. & TORBERGSEN T. (1991) Audiological characteristics in a family with mitochondrial disorder. Am. J. Otol. 12, 459-465
    • (1991) Am. J. Otol. , vol.12 , pp. 459-465
    • Elverland, H.H.1    Torbergsen, T.2
  • 45
    • 0028823953 scopus 로고
    • Mitochondrial encephalomyopathy: A rare genetic cause for sensorineural hearing loss
    • DONOVAN T.J. (1995) Mitochondrial encephalomyopathy: a rare genetic cause for sensorineural hearing loss. Ann. Otol. Rhin. Laryng. 104, 786-792
    • (1995) Ann. Otol. Rhin. Laryng. , vol.104 , pp. 786-792
    • Donovan, T.J.1
  • 46
    • 0030059395 scopus 로고    scopus 로고
    • Bilateral sensorineural hearing loss associated with point mutation in mitochondrial genome
    • OSHIMA T., UEDA N., IKEDA K. ABE K. & TAKASAKA T. (1996) Bilateral sensorineural hearing loss associated with point mutation in mitochondrial genome. Laryngoscope 106, 43-48
    • (1996) Laryngoscope , vol.106 , pp. 43-48
    • Oshima, T.1    Ueda, N.2    Ikeda, K.3    Abe, K.4    Takasaka, T.5
  • 47
    • 0023806809 scopus 로고
    • Hearing impairment and Kearns Sayre syndrome
    • SWIFT A. & SINGH S.D. (1988) Hearing impairment and Kearns Sayre syndrome. J. Laryngol. Otol. 102, 626-627
    • (1988) J. Laryngol. Otol. , vol.102 , pp. 626-627
    • Swift, A.1    Singh, S.D.2
  • 48
    • 0024561803 scopus 로고
    • Mitochondrial encephalomyopathy (MELAS): Pathological study and successful therapy with coenzyme Q and idebenone
    • IHARA Y., NAMBA R., KURODA S., SATO T. & SHIRABE T. (1989) Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q and idebenone. J. Neuro. Sci. 90, 263-271
    • (1989) J. Neuro. Sci. , vol.90 , pp. 263-271
    • Ihara, Y.1    Namba, R.2    Kuroda, S.3    Sato, T.4    Shirabe, T.5
  • 49
    • 0017172744 scopus 로고
    • Histopathologic features of the inner ear associated with Kearns-sayre syndrome
    • LINDSAY J. R. & HINOJOSA R. (1976) Histopathologic features of the inner ear associated with Kearns-sayre syndrome. Arch Otolaryngol. 102, 747-752
    • (1976) Arch Otolaryngol. , vol.102 , pp. 747-752
    • Lindsay, J.R.1    Hinojosa, R.2


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