메뉴 건너뛰기




Volumn 71, Issue 5, 2007, Pages 379-391

Mitochondrial deafness

Author keywords

Acquired mutations; Hearing loss; Mitochondrial mutations; Multifactorial inheritance; Non syndromic; Ototoxicity; Presbyacusis

Indexed keywords

ADENOSINE TRIPHOSPHATE; ALANINE; AMINOGLYCOSIDE ANTIBIOTIC AGENT; CYSTEINE; GLYCINE; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE; STREPTOMYCIN; THREONINE; TRANSFER RNA;

EID: 34248402060     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00800.x     Document Type: Review
Times cited : (190)

References (100)
  • 1
    • 0024828067 scopus 로고
    • The prevalence of hearing impairment and reported hearing disability among adults in Great Britain
    • Davis AC. The prevalence of hearing impairment and reported hearing disability among adults in Great Britain. Int J Epidemiol 1989: 18: 911-917.
    • (1989) Int J Epidemiol , vol.18 , pp. 911-917
    • Davis, A.C.1
  • 2
    • 0027180952 scopus 로고
    • Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
    • Marazita ML, Ploughman LM, Rawlings B et al. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993: 46: 486-491.
    • (1993) Am J Med Genet , vol.46 , pp. 486-491
    • Marazita, M.L.1    Ploughman, L.M.2    Rawlings, B.3
  • 3
    • 19944432928 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
    • Jacobs HT, Hutchin TP, Kappi T et al. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 2005: 13: 26-33.
    • (2005) Eur J Hum Genet , vol.13 , pp. 26-33
    • Jacobs, H.T.1    Hutchin, T.P.2    Kappi, T.3
  • 4
    • 0031418573 scopus 로고    scopus 로고
    • Mitochondrial deafness
    • Jacobs HT. Mitochondrial deafness. Ann Med 1997: 29: 483-491.
    • (1997) Ann Med , vol.29 , pp. 483-491
    • Jacobs, H.T.1
  • 5
    • 0034488807 scopus 로고    scopus 로고
    • Mitochondrial defects and hearing loss
    • Hutchin TP, Cortopassi GA. Mitochondrial defects and hearing loss. Cell Mol Life Sci 2000: 57: 1927-1937.
    • (2000) Cell Mol Life Sci , vol.57 , pp. 1927-1937
    • Hutchin, T.P.1    Cortopassi, G.A.2
  • 6
    • 0034114952 scopus 로고    scopus 로고
    • Maternally inherited hearing impairment
    • Van Camp G, Smith RJ. Maternally inherited hearing impairment. Clin Genet 2000: 57: 409-414.
    • (2000) Clin Genet , vol.57 , pp. 409-414
    • Van Camp, G.1    Smith, R.J.2
  • 7
    • 0033058511 scopus 로고    scopus 로고
    • Mitochondrial deafness mutations reviewed
    • Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum Mutat 1999: 13: 261-270.
    • (1999) Hum Mutat , vol.13 , pp. 261-270
    • Fischel-Ghodsian, N.1
  • 8
    • 0041778318 scopus 로고    scopus 로고
    • Mitochondrial deafness
    • Fischel-Ghodsian N. Mitochondrial deafness. Ear Hear 2003: 24: 303-313.
    • (2003) Ear Hear , vol.24 , pp. 303-313
    • Fischel-Ghodsian, N.1
  • 9
    • 1842678661 scopus 로고    scopus 로고
    • Molecular pathogenetic mechanism of maternally inherited deafness
    • Guan MX. Molecular pathogenetic mechanism of maternally inherited deafness. Ann N Y Acad Sci 2004: 1011: 259-271.
    • (2004) Ann N Y Acad Sci , vol.1011 , pp. 259-271
    • Guan, M.X.1
  • 10
    • 0036665186 scopus 로고    scopus 로고
    • Non-syndromic autosomal-dominant deafness
    • Petersen MB. Non-syndromic autosomal-dominant deafness. Clin Genet 2002: 62: 1-13.
    • (2002) Clin Genet , vol.62 , pp. 1-13
    • Petersen, M.B.1
  • 11
    • 33646150467 scopus 로고    scopus 로고
    • Non-syndromic, autosomal-recessive deafness
    • Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet 2006: 69: 371-392.
    • (2006) Clin Genet , vol.69 , pp. 371-392
    • Petersen, M.B.1    Willems, P.J.2
  • 12
    • 0037009088 scopus 로고    scopus 로고
    • Contact sites between the outer and inner membrane of mitochondria-role in protein transport
    • Reichert A, Neupert W. Contact sites between the outer and inner membrane of mitochondria-role in protein transport. Biochim Biophys Acta 2002: 1592: 41-49.
    • (2002) Biochim Biophys Acta , vol.1592 , pp. 41-49
    • Reichert, A.1    Neupert, W.2
  • 13
    • 0037683586 scopus 로고    scopus 로고
    • Mitochondria of human adrenal cortex have tubular cristae with bulbous tips
    • Riva A, Loffredo F, Uccheddu A et al. Mitochondria of human adrenal cortex have tubular cristae with bulbous tips. J Clin Endocrinol Metab 2003: 88: 1903-1906.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 1903-1906
    • Riva, A.1    Loffredo, F.2    Uccheddu, A.3
  • 14
    • 0031461825 scopus 로고    scopus 로고
    • Mitochondria revisited. Alternative functions of mitochondria
    • Zorov DB, Krasnikov BF, Kuzminova AE et al. Mitochondria revisited. Alternative functions of mitochondria. Biosci Rep 1997: 17: 507-520.
    • (1997) Biosci Rep , vol.17 , pp. 507-520
    • Zorov, D.B.1    Krasnikov, B.F.2    Kuzminova, A.E.3
  • 15
    • 18544387713 scopus 로고    scopus 로고
    • Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome
    • Shanske S, Tang Y, Hirano M et al. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome. Am J Med Genet 2002: 71: 679-683.
    • (2002) Am J Med Genet , vol.71 , pp. 679-683
    • Shanske, S.1    Tang, Y.2    Hirano, M.3
  • 16
    • 0037461342 scopus 로고    scopus 로고
    • Mutation of ANT1, Twinkle, and POLG1 in sporadic progressive external opthalmoplegia (PEO)
    • Agostino A, Chinnery P, Carrara F et al. Mutation of ANT1, Twinkle, and POLG1 in sporadic progressive external opthalmoplegia (PEO). Neurology 2003: 60: 1354-1356.
    • (2003) Neurology , vol.60 , pp. 1354-1356
    • Agostino, A.1    Chinnery, P.2    Carrara, F.3
  • 17
    • 0034951327 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human disease
    • DiMauro S, Schon E. Mitochondrial DNA mutations in human disease. Am J Med Genet 2001: 106: 18-26.
    • (2001) Am J Med Genet , vol.106 , pp. 18-26
    • DiMauro, S.1    Schon, E.2
  • 18
    • 0023240790 scopus 로고
    • Sequence analysis of cDNAs for the human and bovine ATP synthase β subunit: Mitochondrial DNA genes sustain seventeen times more mutations
    • Wallace D, Ye J, Neckelmann S et al. Sequence analysis of cDNAs for the human and bovine ATP synthase β subunit: Mitochondrial DNA genes sustain seventeen times more mutations. Curr Genet 1987: 12: 81-90.
    • (1987) Curr Genet , vol.12 , pp. 81-90
    • Wallace, D.1    Ye, J.2    Neckelmann, S.3
  • 19
    • 0037567638 scopus 로고    scopus 로고
    • Adaptation shapes patterns of genome evolution on sexual and asexual chromosomes in Drosophila
    • Bachtrog D. Adaptation shapes patterns of genome evolution on sexual and asexual chromosomes in Drosophila. Nat Genet 2003: 34: 215-219.
    • (2003) Nat Genet , vol.34 , pp. 215-219
    • Bachtrog, D.1
  • 20
    • 0037324321 scopus 로고    scopus 로고
    • Mismatch repair activity in mammalian mitochondria
    • Mason P, Matheson E, Hall A et al. Mismatch repair activity in mammalian mitochondria. Nucleic Acids Res 2003: 31: 1052-1058.
    • (2003) Nucleic Acids Res , vol.31 , pp. 1052-1058
    • Mason, P.1    Matheson, E.2    Hall, A.3
  • 21
    • 0037109017 scopus 로고    scopus 로고
    • Natural radioactivity and human mitochondrial DNA mutations
    • Forster L, Forster P, Lutz-Bonengel S et al. Natural radioactivity and human mitochondrial DNA mutations. Proc Natl Acad Sci U S A 2002: 99: 13950-13954.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 13950-13954
    • Forster, L.1    Forster, P.2    Lutz-Bonengel, S.3
  • 22
    • 16844373745 scopus 로고    scopus 로고
    • Reactive oxygen species production in the mitochondrial matrix: Implications for the mechanism of mitochondrial mutation accumulation
    • De Grey AD. Reactive oxygen species production in the mitochondrial matrix: Implications for the mechanism of mitochondrial mutation accumulation. Rejuvenation Res 2005: 8: 13-17.
    • (2005) Rejuvenation Res , vol.8 , pp. 13-17
    • De Grey, A.D.1
  • 23
  • 24
    • 20344366079 scopus 로고    scopus 로고
    • Mitochondrial DNA and disease
    • DiMauro S, Davidzon G. Mitochondrial DNA and disease. Ann Med 2005: 37: 222-232.
    • (2005) Ann Med , vol.37 , pp. 222-232
    • DiMauro, S.1    Davidzon, G.2
  • 25
    • 0036947414 scopus 로고    scopus 로고
    • Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy
    • Sudoyo H, Suryadi H, Lertrit P et al. Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy. J Hum Genet 2002: 47: 594-604.
    • (2002) J Hum Genet , vol.47 , pp. 594-604
    • Sudoyo, H.1    Suryadi, H.2    Lertrit, P.3
  • 26
    • 0035869153 scopus 로고    scopus 로고
    • Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
    • Guan M, Fischel-Ghodsian N, Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum Mol Genet 2001: 10: 573-580.
    • (2001) Hum Mol Genet , vol.10 , pp. 573-580
    • Guan, M.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 27
    • 0000204255 scopus 로고
    • Maternal inheritance of human mitochondrial DNA
    • Giles RE, Blanc H, Cann HM et al. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A 1980: 77: 6715-6719.
    • (1980) Proc Natl Acad Sci U S A , vol.77 , pp. 6715-6719
    • Giles, R.E.1    Blanc, H.2    Cann, H.M.3
  • 28
    • 7244251717 scopus 로고    scopus 로고
    • Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome
    • Wang Q, Ito M, Adams K. Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome. Am J Med Genet 2004: 131: 50-58.
    • (2004) Am J Med Genet , vol.131 , pp. 50-58
    • Wang, Q.1    Ito, M.2    Adams, K.3
  • 29
    • 0028574053 scopus 로고
    • Mitochondrial DNA sequence variation in human evolution and disease
    • Wallace DC. Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci U S A 1994: 91: 8739-8746.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 8739-8746
    • Wallace, D.C.1
  • 30
    • 17344365276 scopus 로고    scopus 로고
    • Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
    • Estivill X, Govea N, Barcelo E et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998: 62: 27-35.
    • (1998) Am J Hum Genet , vol.62 , pp. 27-35
    • Estivill, X.1    Govea, N.2    Barcelo, E.3
  • 31
    • 12844286161 scopus 로고    scopus 로고
    • Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family
    • Li R, Ishikawa K, Deng JH et al. Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family. Biochem Biophys Res Commun 2005: 328: 32-37.
    • (2005) Biochem Biophys Res Commun , vol.328 , pp. 32-37
    • Li, R.1    Ishikawa, K.2    Deng, J.H.3
  • 32
    • 0038813819 scopus 로고    scopus 로고
    • A review of cochlear implantation in mitochondrial sensorineural hearing loss
    • Sinnathuray AR, Raut V, Awa A et al. A review of cochlear implantation in mitochondrial sensorineural hearing loss. Otol Neurotol 2003: 24: 418-426.
    • (2003) Otol Neurotol , vol.24 , pp. 418-426
    • Sinnathuray, A.R.1    Raut, V.2    Awa, A.3
  • 33
    • 33750555569 scopus 로고    scopus 로고
    • Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy
    • Scaglia F, Hsu CH, Kwon H et al. Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med 2006: 8: 641-652.
    • (2006) Genet Med , vol.8 , pp. 641-652
    • Scaglia, F.1    Hsu, C.H.2    Kwon, H.3
  • 34
    • 17244365458 scopus 로고    scopus 로고
    • Audiologic testing and molecular analysis of 12S rRNA in patients receiving aminoglycosides
    • Gurtler N, Schmuziger N, Kim Y et al. Audiologic testing and molecular analysis of 12S rRNA in patients receiving aminoglycosides. Laryngoscope 2005: 115: 640-644.
    • (2005) Laryngoscope , vol.115 , pp. 640-644
    • Gurtler, N.1    Schmuziger, N.2    Kim, Y.3
  • 35
    • 32344452298 scopus 로고    scopus 로고
    • Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment
    • Ballana E, Morales E, Rabionet R et al. Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. Biochem Biophys Res Commun 2006: 341: 950-957.
    • (2006) Biochem Biophys Res Commun , vol.341 , pp. 950-957
    • Ballana, E.1    Morales, E.2    Rabionet, R.3
  • 36
    • 34247176852 scopus 로고    scopus 로고
    • Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene
    • Rodríguez-Ballesteros M, Olarte M, Aguirre LA et al. Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene. J Med Genet 2006: 43: e54.
    • (2006) J Med Genet , vol.43
    • Rodríguez-Ballesteros, M.1    Olarte, M.2    Aguirre, L.A.3
  • 37
    • 33749463802 scopus 로고    scopus 로고
    • Variants in mitochondrial tRNA(Glu), tRNA(Arg), and tRNA(Thr) may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss
    • Young WY, Zhao L, Qian Y et al. Variants in mitochondrial tRNA(Glu), tRNA(Arg), and tRNA(Thr) may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss. Am J Med Genet 2006: 140A: 2188-2197.
    • (2006) Am J Med Genet , vol.140 A , pp. 2188-2197
    • Young, W.Y.1    Zhao, L.2    Qian, Y.3
  • 38
    • 33646087204 scopus 로고    scopus 로고
    • Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene
    • Bravo O, Ballana E, Estivill X et al. Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. Biochem Biophys Res Commun 2006: 344: 511-516.
    • (2006) Biochem Biophys Res Commun , vol.344 , pp. 511-516
    • Bravo, O.1    Ballana, E.2    Estivill, X.3
  • 39
    • 0032133616 scopus 로고    scopus 로고
    • Sensorineural hearing loss in MELAS syndrome - Case report
    • Chen JN, Ho KY, Juan KH. Sensorineural hearing loss in MELAS syndrome - case report. Kaohsiung J Med Sci 1998: 14: 519-523.
    • (1998) Kaohsiung J Med Sci , vol.14 , pp. 519-523
    • Chen, J.N.1    Ho, K.Y.2    Juan, K.H.3
  • 40
    • 2942592233 scopus 로고    scopus 로고
    • Deafness due to A1555G mitochondrial mutation without use of aminoglycoside
    • Matsunaga T, Kumanomido H, Shiroma M et al. Deafness due to A1555G mitochondrial mutation without use of aminoglycoside. Laryngoscope 2004: 114: 1085-1091.
    • (2004) Laryngoscope , vol.114 , pp. 1085-1091
    • Matsunaga, T.1    Kumanomido, H.2    Shiroma, M.3
  • 41
    • 0035370297 scopus 로고    scopus 로고
    • Ototoxicity associated with use of nucleoside analog reverse transcriptase inhibitors: A report of 3 possible cases and review of the literature
    • Simdon J, Watters D, Bartlett S et al. Ototoxicity associated with use of nucleoside analog reverse transcriptase inhibitors: A report of 3 possible cases and review of the literature. Clin Infect Dis 2001: 32: 1623-1627.
    • (2001) Clin Infect Dis , vol.32 , pp. 1623-1627
    • Simdon, J.1    Watters, D.2    Bartlett, S.3
  • 42
    • 0030021109 scopus 로고    scopus 로고
    • Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene
    • Yamasoba T, Oka Y, Tsukuda K et al. Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene. Laryngoscope 1996: 106: 49-53.
    • (1996) Laryngoscope , vol.106 , pp. 49-53
    • Yamasoba, T.1    Oka, Y.2    Tsukuda, K.3
  • 43
    • 0001011923 scopus 로고    scopus 로고
    • The aminoglycosides
    • In: Hardman JG, Limbird LE, Molinoff PB, Ruddon RW, Gilman A, eds. 9th edn. New York, NY: McGraw-Hill
    • Chamber HF, Sande MA. The aminoglycosides. In: Hardman JG, Limbird LE, Molinoff PB, Ruddon RW, Gilman A, eds. The pharmocological basis of therapeutic, 9th edn. New York, NY: McGraw-Hill, 1996: 1103-1221.
    • (1996) The Pharmocological Basis of Therapeutic , pp. 1103-1221
    • Chamber, H.F.1    Sande, M.A.2
  • 44
    • 0032796453 scopus 로고    scopus 로고
    • Genetic factors in aminoglycoside toxicity
    • Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Ann N Y Acad Sci 1999: 884: 99-109.
    • (1999) Ann N Y Acad Sci , vol.884 , pp. 99-109
    • Fischel-Ghodsian, N.1
  • 45
    • 0002442588 scopus 로고
    • Gentamicin uptake by cochlear hair cells precedes hearing impairment during chronic treatment
    • Hiel H, Erre JP, Aurousseau C et al. Gentamicin uptake by cochlear hair cells precedes hearing impairment during chronic treatment. Audiology 1993: 32: 78-87.
    • (1993) Audiology , vol.32 , pp. 78-87
    • Hiel, H.1    Erre, J.P.2    Aurousseau, C.3
  • 46
    • 20344407298 scopus 로고    scopus 로고
    • Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss
    • Li Z, Li R, Chen J et al. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum Genet 2005: 117: 9-15.
    • (2005) Hum Genet , vol.117 , pp. 9-15
    • Li, Z.1    Li, R.2    Chen, J.3
  • 47
    • 25144501268 scopus 로고    scopus 로고
    • Cosegregation of the G7444A mutation in the mitochondrial COI/ tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss
    • Yuan H, Qian Y, Xu Y et al. Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Am J Med Genet 2005: 138: 133-140.
    • (2005) Am J Med Genet , vol.138 , pp. 133-140
    • Yuan, H.1    Qian, Y.2    Xu, Y.3
  • 48
    • 29244487525 scopus 로고    scopus 로고
    • Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness
    • Dai P, Liu X, Han D et al. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness. Biochem Biophys Res Commun 2006: 340: 194-199.
    • (2006) Biochem Biophys Res Commun , vol.340 , pp. 194-199
    • Dai, P.1    Liu, X.2    Han, D.3
  • 49
    • 29644446464 scopus 로고    scopus 로고
    • Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation
    • Wang Q, Li QZ, Han D et al. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. Biochem Biophys Res Commun 2006: 340: 583-588.
    • (2006) Biochem Biophys Res Commun , vol.340 , pp. 583-588
    • Wang, Q.1    Li, Q.Z.2    Han, D.3
  • 50
    • 33644619985 scopus 로고    scopus 로고
    • Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families
    • Zhu Y, Qian Y, Tang X et al. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families. Biochem Biophys Res Commun 2006: 342: 843-850.
    • (2006) Biochem Biophys Res Commun , vol.342 , pp. 843-850
    • Zhu, Y.1    Qian, Y.2    Tang, X.3
  • 51
    • 33746969898 scopus 로고    scopus 로고
    • The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss
    • Van Laer L, Carlsson PI, Ottschytsch N et al. The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. Hum Mutat 2006: 27: 786-795.
    • (2006) Hum Mutat , vol.27 , pp. 786-795
    • Van Laer, L.1    Carlsson, P.I.2    Ottschytsch, N.3
  • 52
    • 33748999299 scopus 로고    scopus 로고
    • KCNQ4: A gene for age-related hearing impairment?
    • Van Eyken E, Van Laer L, Fransen E et al. KCNQ4: A gene for age-related hearing impairment? Hum Mutat 2006: 27: 1007-1016.
    • (2006) Hum Mutat , vol.27 , pp. 1007-1016
    • Van Eyken, E.1    Van Laer, L.2    Fransen, E.3
  • 53
    • 0032810047 scopus 로고    scopus 로고
    • Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
    • Coucke PJ, Van Hauwe P, Kelley PM et al. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet 1999: 8: 1321-1328.
    • (1999) Hum Mol Genet , vol.8 , pp. 1321-1328
    • Coucke, P.J.1    Van Hauwe, P.2    Kelley, P.M.3
  • 54
    • 0030849125 scopus 로고    scopus 로고
    • Mitochondrial DNA deletions associated with aging and possibly presbycusis: A human archival temporal bone study
    • Bai U, Seidman MD, Hinojosa R et al. Mitochondrial DNA deletions associated with aging and possibly presbycusis: A human archival temporal bone study. Am J Otol 1997: 18: 449-453.
    • (1997) Am J Otol , vol.18 , pp. 449-453
    • Bai, U.1    Seidman, M.D.2    Hinojosa, R.3
  • 55
    • 0030745117 scopus 로고    scopus 로고
    • Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations
    • Fischel-Ghodsian N, Bykhovskaya Y, Taylor K et al. Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations. Hear Res 1997: 110: 147-154.
    • (1997) Hear Res , vol.110 , pp. 147-154
    • Fischel-Ghodsian, N.1    Bykhovskaya, Y.2    Taylor, K.3
  • 56
    • 0026849690 scopus 로고
    • Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
    • Ballinger SW, Shoffner JM, Hedaya EV et al. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1992: 1: 11-15.
    • (1992) Nat Genet , vol.1 , pp. 11-15
    • Ballinger, S.W.1    Shoffner, J.M.2    Hedaya, E.V.3
  • 57
    • 0032231894 scopus 로고    scopus 로고
    • Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness
    • Martin-Negrier ML, Coquet M, Moretto BT et al. Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness. Am J Hum Genet 1998: 63: 1227-1232.
    • (1998) Am J Hum Genet , vol.63 , pp. 1227-1232
    • Martin-Negrier, M.L.1    Coquet, M.2    Moretto, B.T.3
  • 58
    • 0026462744 scopus 로고
    • Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
    • Reardon W, Ross RJ, Sweeney MG et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992: 340: 1376-1379.
    • (1992) Lancet , vol.340 , pp. 1376-1379
    • Reardon, W.1    Ross, R.J.2    Sweeney, M.G.3
  • 59
    • 0026906885 scopus 로고
    • Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • van den Ouweland JM, Lemkes HH, Ruitenbeek W et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992: 1: 368-371.
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • van den Ouweland, J.M.1    Lemkes, H.H.2    Ruitenbeek, W.3
  • 60
    • 0032540091 scopus 로고    scopus 로고
    • Novel mitochondrial DNA mutation in tRNA(Lys) (8296A→G) associated with diabetes
    • Kameoka K, Isotani H, Tanaka K et al. Novel mitochondrial DNA mutation in tRNA(Lys) (8296A→G) associated with diabetes. Biochem Biophys Res Commun 1998: 245: 523-527.
    • (1998) Biochem Biophys Res Commun , vol.245 , pp. 523-527
    • Kameoka, K.1    Isotani, H.2    Tanaka, K.3
  • 61
    • 0030832950 scopus 로고    scopus 로고
    • Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): A case report
    • Vialettes BH, Paquis-Flucklinger V, Pelissier JF et al. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): A case report. Diabetes Care 1997: 20: 1731-1737.
    • (1997) Diabetes Care , vol.20 , pp. 1731-1737
    • Vialettes, B.H.1    Paquis-Flucklinger, V.2    Pelissier, J.F.3
  • 62
    • 0028328317 scopus 로고
    • A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
    • Kadowaki T, Kadowaki H, Mori Y et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med 1994: 330: 962-968.
    • (1994) N Engl J Med , vol.330 , pp. 962-968
    • Kadowaki, T.1    Kadowaki, H.2    Mori, Y.3
  • 63
    • 0028903783 scopus 로고
    • Screening for mtDNA diabetes mutations in Pima Indians with NIDDM
    • Sepehrnia B, Prezant TR, Rotter JI et al. Screening for mtDNA diabetes mutations in Pima Indians with NIDDM. Am J Med Genet 1995: 56: 198-202.
    • (1995) Am J Med Genet , vol.56 , pp. 198-202
    • Sepehrnia, B.1    Prezant, T.R.2    Rotter, J.I.3
  • 64
    • 0035341093 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness: A multicenter study
    • Guillausseau PJ, Massin P, Dubois-LaForgue D et al. Maternally inherited diabetes and deafness: A multicenter study. Ann Intern Med 2001: 134: 721-728.
    • (2001) Ann Intern Med , vol.134 , pp. 721-728
    • Guillausseau, P.J.1    Massin, P.2    Dubois-LaForgue, D.3
  • 65
    • 33646186013 scopus 로고    scopus 로고
    • Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family
    • Xing G, Chen Z, Wei Q et al. Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. Biochem Biophys Res Commun 2006: 344: 1253-1257.
    • (2006) Biochem Biophys Res Commun , vol.344 , pp. 1253-1257
    • Xing, G.1    Chen, Z.2    Wei, Q.3
  • 66
    • 0029003553 scopus 로고
    • Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness
    • Bacino C, Prezant TR, Bu X et al. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 1995: 5: 165-172.
    • (1995) Pharmacogenetics , vol.5 , pp. 165-172
    • Bacino, C.1    Prezant, T.R.2    Bu, X.3
  • 67
    • 13044279515 scopus 로고    scopus 로고
    • Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications
    • Casano RA, Johnson DF, Bykhovskaya Y et al. Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications. Am J Otolaryngol 1999: 20: 151-156.
    • (1999) Am J Otolaryngol , vol.20 , pp. 151-156
    • Casano, R.A.1    Johnson, D.F.2    Bykhovskaya, Y.3
  • 68
    • 19444371441 scopus 로고    scopus 로고
    • Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation
    • Kobayashi K, Oquci T, Asamura K et al. Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation. Auris Nasus Larynx 2005: 32: 119-124.
    • (2005) Auris Nasus Larynx , vol.32 , pp. 119-124
    • Kobayashi, K.1    Oquci, T.2    Asamura, K.3
  • 69
    • 0036726578 scopus 로고    scopus 로고
    • Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk?
    • Tang HY, Hutcheson E, Neill S et al. Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk? Genet Med 2002: 4: 336-345.
    • (2002) Genet Med , vol.4 , pp. 336-345
    • Tang, H.Y.1    Hutcheson, E.2    Neill, S.3
  • 70
    • 0033768121 scopus 로고    scopus 로고
    • A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy
    • Thyagarajan D, Bressman S, Bruno C et al. A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. Ann Neurol 2000: 48: 730-736.
    • (2000) Ann Neurol , vol.48 , pp. 730-736
    • Thyagarajan, D.1    Bressman, S.2    Bruno, C.3
  • 71
    • 0035131983 scopus 로고    scopus 로고
    • Maternally inherited deafness associated with a T1095C mutation in the mDNA
    • Tessa A, Giannotti A, Tieri L et al. Maternally inherited deafness associated with a T1095C mutation in the mDNA. Eur J Hum Genet 2001: 9: 147-149.
    • (2001) Eur J Hum Genet , vol.9 , pp. 147-149
    • Tessa, A.1    Giannotti, A.2    Tieri, L.3
  • 72
    • 8844236333 scopus 로고    scopus 로고
    • Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation
    • Zhao L, Young WY, Li R et al. Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. Biochem Biophys Res Commun 2004: 325: 1503-1508.
    • (2004) Biochem Biophys Res Commun , vol.325 , pp. 1503-1508
    • Zhao, L.1    Young, W.Y.2    Li, R.3
  • 73
    • 19944430235 scopus 로고    scopus 로고
    • Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation
    • Wang Q, Li R, Zhao H et al. Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. Am J Med Genet 2005: 13: 27-30.
    • (2005) Am J Med Genet , vol.13 , pp. 27-30
    • Wang, Q.1    Li, R.2    Zhao, H.3
  • 74
    • 33646185290 scopus 로고    scopus 로고
    • A reappraisal of complete mtDNA variation in East Asian families with hearing impairment
    • Yao YG, Salas A, Bravi CM et al. A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet 2006: 119: 505-515.
    • (2006) Hum Genet , vol.119 , pp. 505-515
    • Yao, Y.G.1    Salas, A.2    Bravi, C.M.3
  • 75
    • 33746729705 scopus 로고    scopus 로고
    • Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families
    • Dai P, Yuan Y, Huang D et al. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families. Biochem Biophys Res Commun 2006: 384: 200-205.
    • (2006) Biochem Biophys Res Commun , vol.384 , pp. 200-205
    • Dai, P.1    Yuan, Y.2    Huang, D.3
  • 76
    • 4043089861 scopus 로고    scopus 로고
    • Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss
    • Li R, Greinwald JH, Yang L et al. Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. J Med Genet 2004: 41: 615-620.
    • (2004) J Med Genet , vol.41 , pp. 615-620
    • Li, R.1    Greinwald, J.H.2    Yang, L.3
  • 77
    • 0008835357 scopus 로고    scopus 로고
    • Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients
    • Kupka S, Toth T, Wrobel M et al. Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients. Hum Mutat 2002: 19: 308-309.
    • (2002) Hum Mutat , vol.19 , pp. 308-309
    • Kupka, S.1    Toth, T.2    Wrobel, M.3
  • 78
    • 0042828920 scopus 로고    scopus 로고
    • Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
    • del Castillo FJ, Rodriguez-Ballesteros M, Martin Y et al. Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J Med Genet 2003: 40: 632-636.
    • (2003) J Med Genet , vol.40 , pp. 632-636
    • del Castillo, F.J.1    Rodriguez-Ballesteros, M.2    Martin, Y.3
  • 79
    • 0034054301 scopus 로고    scopus 로고
    • Prevalence of mitochondrial gene mutations among hearing impaired patients
    • Usami S, Abe S, Akita J et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet 2000: 37: 38-40.
    • (2000) J Med Genet , vol.37 , pp. 38-40
    • Usami, S.1    Abe, S.2    Akita, J.3
  • 80
    • 0027218979 scopus 로고
    • A molecular basis for human hypersensitivity to aminoglycoside antibiotics
    • Hutchin T, Haworth I, Higashi K et al. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 1993: 21: 4174-4179.
    • (1993) Nucleic Acids Res , vol.21 , pp. 4174-4179
    • Hutchin, T.1    Haworth, I.2    Higashi, K.3
  • 81
    • 13744258058 scopus 로고    scopus 로고
    • Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation
    • Young WY, Zhao L, Qian Y et al. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem Biophys Res Commun 2005: 328: 1244-1251.
    • (2005) Biochem Biophys Res Commun , vol.328 , pp. 1244-1251
    • Young, W.Y.1    Zhao, L.2    Qian, Y.3
  • 82
    • 0033366515 scopus 로고    scopus 로고
    • Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
    • Santorelli FM, Tanji K, Manta P et al. Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet 1999: 64: 295-300.
    • (1999) Am J Hum Genet , vol.64 , pp. 295-300
    • Santorelli, F.M.1    Tanji, K.2    Manta, P.3
  • 83
    • 33745434432 scopus 로고    scopus 로고
    • Reply to correspondence by Abreu-Silva et al. regarding Ballana et al.: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin
    • Ballana E, Morales E, Estivill X. Reply to correspondence by Abreu-Silva et al. regarding Ballana et al.: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin. Biochem Biophys Res Commun 2006: 346: 619-620.
    • (2006) Biochem Biophys Res Commun , vol.346 , pp. 619-620
    • Ballana, E.1    Morales, E.2    Estivill, X.3
  • 84
    • 33645951697 scopus 로고    scopus 로고
    • Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients
    • Abreu-Silva RS, Lezirovitz K, Braga MC et al. Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients. Braz J Med Biol Res 2006: 39: 219-226.
    • (2006) Braz J Med Biol Res , vol.39 , pp. 219-226
    • Abreu-Silva, R.S.1    Lezirovitz, K.2    Braga, M.C.3
  • 85
    • 33751265102 scopus 로고    scopus 로고
    • What is a 'novel' mtDNA mutation - And does 'novelty' really matter?
    • (Epub ahead of print)
    • Bandelt HJ, Salas A, Bravi CM. What is a 'novel' mtDNA mutation - and does 'novelty' really matter? J Hum Genet 2006. (Epub ahead of print)
    • (2006) J Hum Genet
    • Bandelt, H.J.1    Salas, A.2    Bravi, C.M.3
  • 86
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • Reid FM, Vernham GA, Jacobs HT. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 1994: 3: 243-247.
    • (1994) Hum Mutat , vol.3 , pp. 243-247
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 87
    • 0028847380 scopus 로고
    • Mitochondrial mutation associated with nonsyndromic deafness
    • Fischel-Ghodsian N, Prezant TR, Fournier P et al. Mitochondrial mutation associated with nonsyndromic deafness. Am J Otolaryngol 1995: 16: 403-408.
    • (1995) Am J Otolaryngol , vol.16 , pp. 403-408
    • Fischel-Ghodsian, N.1    Prezant, T.R.2    Fournier, P.3
  • 88
    • 0031962646 scopus 로고    scopus 로고
    • Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness
    • Sevior KB, Hatamochi A, Stewart IA et al. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 1998: 75: 179-185.
    • (1998) Am J Med Genet , vol.75 , pp. 179-185
    • Sevior, K.B.1    Hatamochi, A.2    Stewart, I.A.3
  • 89
    • 0033752630 scopus 로고    scopus 로고
    • Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome
    • Martin L, Toutain A, Guillen C et al. Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. Br J Dermatol 2000: 143: 876-883.
    • (2000) Br J Dermatol , vol.143 , pp. 876-883
    • Martin, L.1    Toutain, A.2    Guillen, C.3
  • 90
    • 0035141409 scopus 로고    scopus 로고
    • Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation
    • Hutchin TP, Lench NJ, Arbuzova S et al. Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. Eur J Hum Genet 2001: 9: 56-58.
    • (2001) Eur J Hum Genet , vol.9 , pp. 56-58
    • Hutchin, T.P.1    Lench, N.J.2    Arbuzova, S.3
  • 91
    • 21744453484 scopus 로고    scopus 로고
    • A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma
    • Caria H, Matos T, Oliveira-Soares R et al. A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma. J Eur Acad Dermatol Venereol 2005: 19: 455-458.
    • (2005) J Eur Acad Dermatol Venereol , vol.19 , pp. 455-458
    • Caria, H.1    Matos, T.2    Oliveira-Soares, R.3
  • 92
    • 15644370475 scopus 로고    scopus 로고
    • Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene
    • Jaksch M, Klopstock T, Kurlemann G et al. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann Neurol 1998: 44: 635-640.
    • (1998) Ann Neurol , vol.44 , pp. 635-640
    • Jaksch, M.1    Klopstock, T.2    Kurlemann, G.3
  • 93
    • 0031784401 scopus 로고    scopus 로고
    • Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation
    • Schuelke M, Bakker M, Stoltenburg G et al. Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation. Ann Neurol 1998: 44: 700-704.
    • (1998) Ann Neurol , vol.44 , pp. 700-704
    • Schuelke, M.1    Bakker, M.2    Stoltenburg, G.3
  • 94
    • 4444381489 scopus 로고    scopus 로고
    • The 7472insC mtDNA mutation impairs 5′ and 3′ processing of tRNA(Ser(UCN))
    • Toompuu M, Levinger LL, Nadal A et al. The 7472insC mtDNA mutation impairs 5′ and 3′ processing of tRNA(Ser(UCN)). Biochem Biophys Res Commun 2004: 322: 803-813.
    • (2004) Biochem Biophys Res Commun , vol.322 , pp. 803-813
    • Toompuu, M.1    Levinger, L.L.2    Nadal, A.3
  • 95
    • 0033833303 scopus 로고    scopus 로고
    • A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment
    • Hutchin TP, Parker MJ, Young ID et al. A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. J Med Genet 2000: 37: 692-694.
    • (2000) J Med Genet , vol.37 , pp. 692-694
    • Hutchin, T.P.1    Parker, M.J.2    Young, I.D.3
  • 96
    • 0033522788 scopus 로고    scopus 로고
    • Maternally inherited nonsyndromic hearing loss
    • Friedman RA, Bykhovskaya Y, Sue CM et al. Maternally inherited nonsyndromic hearing loss. Am J Med Genet 1999: 84: 369-372.
    • (1999) Am J Med Genet , vol.84 , pp. 369-372
    • Friedman, R.A.1    Bykhovskaya, Y.2    Sue, C.M.3
  • 97
    • 0032976423 scopus 로고    scopus 로고
    • Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
    • Sue CM, Tanji K, Hadjigeorgiou G et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 1999: 52: 1905-1908.
    • (1999) Neurology , vol.52 , pp. 1905-1908
    • Sue, C.M.1    Tanji, K.2    Hadjigeorgiou, G.3
  • 98
    • 0036348122 scopus 로고    scopus 로고
    • Nonsyndromic hearing loss caused by mitochondrial T7511C mutation
    • Ishikawa K, Tamagawa Y, Takahashi K et al. Nonsyndromic hearing loss caused by mitochondrial T7511C mutation. Laryngoscope 2002: 112: 1494-1499.
    • (2002) Laryngoscope , vol.112 , pp. 1494-1499
    • Ishikawa, K.1    Tamagawa, Y.2    Takahashi, K.3
  • 99
    • 0036930715 scopus 로고    scopus 로고
    • Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: Evidence for a modulatory factor
    • Chapiro E, Feldmann D, Deoyelle F et al. Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: Evidence for a modulatory factor. Eur J Hum Genet 2002: 10: 851-856.
    • (2002) Eur J Hum Genet , vol.10 , pp. 851-856
    • Chapiro, E.1    Feldmann, D.2    Deoyelle, F.3
  • 100
    • 1842678658 scopus 로고    scopus 로고
    • Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness
    • Li X, Fischel-Ghodsian N, Schwartz F et al. Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. Nucleic Acids Res 2004: 32: 867-877.
    • (2004) Nucleic Acids Res , vol.32 , pp. 867-877
    • Li, X.1    Fischel-Ghodsian, N.2    Schwartz, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.