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Volumn 11, Issue 2, 1998, Pages 114-120

Mitochondrial DNA studies and clinical findings in Wolfram syndrome: An Italian multicenter survey

Author keywords

DIDMOAD; Mitochondrial DNA; Wolfram syndrome

Indexed keywords

MITOCHONDRIAL DNA;

EID: 7844242544     PISSN: 03943402     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (40)
  • 1
    • 0000804149 scopus 로고
    • Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
    • Wolfram D.J.: Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Proc. Mayo Clin. 13: 715-718, 1938.
    • (1938) Proc. Mayo Clin. , vol.13 , pp. 715-718
    • Wolfram, D.J.1
  • 2
    • 0017764306 scopus 로고
    • Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 patients
    • Cremers C.W.R.J., Wiideveld P.G.A.B., Pinckers A.J.LG.: Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 patients. Acta Paediatr. Scand. (Suppl 264): 2-16, 1977.
    • (1977) Acta Paediatr. Scand. , Issue.264 SUPPL. , pp. 2-16
    • Cremers, C.W.R.J.1    Wiideveld, P.G.A.B.2    Pinckers, A.J.L.G.3
  • 3
    • 0021968147 scopus 로고
    • Association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness: The Wolfram or DIDMOAD syndrome
    • Najjar S.S., Saikaly M.G., Zaytoun G.M., Abdelnoor A.: Association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness: the Wolfram or DIDMOAD syndrome. Arch. Dis. Child. 60: 823-828, 1985.
    • (1985) Arch. Dis. Child. , vol.60 , pp. 823-828
    • Najjar, S.S.1    Saikaly, M.G.2    Zaytoun, G.M.3    Abdelnoor, A.4
  • 4
    • 0017162303 scopus 로고
    • Recessive inheritance of diabetes: The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness
    • Page M.M., Asmal A.C., Edwards C.R.W.: Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Quart. J. Med. 45: 505-520, 1976.
    • (1976) Quart. J. Med. , vol.45 , pp. 505-520
    • Page, M.M.1    Asmal, A.C.2    Edwards, C.R.W.3
  • 5
    • 0017645098 scopus 로고
    • Diabetes mellitus, diabetes insipidus and optic atrophy. An autosomal recessive syndrome?
    • Fraser F.C., Gunn T.: Diabetes mellitus, diabetes insipidus and optic atrophy. An autosomal recessive syndrome? J. Med. Genet. 14: 190-193, 1977.
    • (1977) J. Med. Genet. , vol.14 , pp. 190-193
    • Fraser, F.C.1    Gunn, T.2
  • 6
    • 0028038337 scopus 로고
    • Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
    • Polymeropoulos M.H., Swift R.G., Swift M.: Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat .Genet. 8: 95-97, 1994.
    • (1994) Nat .Genet. , vol.8 , pp. 95-97
    • Polymeropoulos, M.H.1    Swift, R.G.2    Swift, M.3
  • 8
    • 0027275218 scopus 로고
    • Wolfram syndrome: A mitochondrial - Mediated disorder?
    • Bu X., Rotter J.I.: Wolfram syndrome: a mitochondrial - mediated disorder? Lancet 342: 598-600, 1993.
    • (1993) Lancet , vol.342 , pp. 598-600
    • Bu, X.1    Rotter, J.I.2
  • 13
    • 0029875834 scopus 로고    scopus 로고
    • Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNA Leu (UUR) gene mutation
    • Velho G., Byrne M.M., Clement K., Sturis J., Pueyo M.E., Blanche H., Vionnel N., Fiet J., Passa P., Robert J.J., Polonsky K.S., Froguel P.: Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNA Leu (UUR) gene mutation. Diabetes 45: 478-487, 1996.
    • (1996) Diabetes , vol.45 , pp. 478-487
    • Velho, G.1    Byrne, M.M.2    Clement, K.3    Sturis, J.4    Pueyo, M.E.5    Blanche, H.6    Vionnel, N.7    Fiet, J.8    Passa, P.9    Robert, J.J.10    Polonsky, K.S.11    Froguel, P.12
  • 14
    • 0029914927 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness: A new diabetes subtype
    • Maassen J.A., Kadowaki T.: Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia 39: 375-382, 1996.
    • (1996) Diabetologia , vol.39 , pp. 375-382
    • Maassen, J.A.1    Kadowaki, T.2
  • 15
    • 0029976297 scopus 로고    scopus 로고
    • Role of mitochondrial DNA tRNA Leucine and glucagon receptor missense mutations in Utah white diabetic patients
    • Elbein S.C., Hoffman M.D.: Role of mitochondrial DNA tRNA Leucine and glucagon receptor missense mutations in Utah white diabetic patients. Diabetes Care 19: 507-508, 1996.
    • (1996) Diabetes Care , vol.19 , pp. 507-508
    • Elbein, S.C.1    Hoffman, M.D.2
  • 16
    • 0031113339 scopus 로고    scopus 로고
    • The mitochondrial DNA (tRNALEU) mutation in a Southern Italian diabetic population
    • Rigoli L., Di Benedetto A., Romano G., Corica F., Cucinotta D.: The mitochondrial DNA (tRNALEU) mutation in a Southern Italian diabetic population. Diabetes Care 20: 674-675, 1997.
    • (1997) Diabetes Care , vol.20 , pp. 674-675
    • Rigoli, L.1    Di Benedetto, A.2    Romano, G.3    Corica, F.4    Cucinotta, D.5
  • 17
    • 0027526665 scopus 로고
    • Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (Wolfram syndrome, MIM 222300)
    • Rotig A., Cormier V, Chatelain P., Chatelain P., Francois R., Saudubray J.M., Rustin P., Munnich A.: Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (Wolfram syndrome, MIM 222300). J. Clin. Invest. 91: 1095-1098, 1993.
    • (1993) J. Clin. Invest. , vol.91 , pp. 1095-1098
    • Rotig, A.1    Cormier, V.2    Chatelain, P.3    Chatelain, P.4    Francois, R.5    Saudubray, J.M.6    Rustin, P.7    Munnich, A.8
  • 19
    • 0020075602 scopus 로고
    • The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD syndrome)
    • Dreyer M., Rudiger H.W., Bujiara K. et al: The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD syndrome). Klin. Wochenschr. 60: 471-475, 1982.
    • (1982) Klin. Wochenschr. , vol.60 , pp. 471-475
    • Dreyer, M.1    Rudiger, H.W.2    Bujiara, K.3
  • 21
    • 0026715879 scopus 로고
    • Nucleus- Driven mutations of human mitochondrial DNA
    • Zeviani M.: Nucleus- driven mutations of human mitochondrial DNA. J. Inherited. Metab. Dis. 15 : 456-471, 1992.
    • (1992) J. Inherited. Metab. Dis. , vol.15 , pp. 456-471
    • Zeviani, M.1
  • 22
    • 0027511591 scopus 로고
    • Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNA Leu gene
    • Gerluts K.D., Paprotta A., Jaksch M., Zurg S., Drechsel J.: Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNA Leu gene. F.E.B.S. Lett. 321: 194-196, 1993.
    • (1993) F.E.B.S. Lett. , vol.321 , pp. 194-196
    • Gerluts, K.D.1    Paprotta, A.2    Jaksch, M.3    Zurg, S.4    Drechsel, J.5
  • 23
    • 0025807222 scopus 로고
    • Maternally inherited myopathy and cardiomyopathy: Association with mutation in mitochondrial DNA tRNALEU (UUR)
    • Zeviani M., Gellera C., Antozzi C. Rimoldi M., Morandi L., Villani F., Tiranti V., Di Donate S.: Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALEU (UUR). Lancet 2: 143-147, 1991.
    • (1991) Lancet , vol.2 , pp. 143-147
    • Zeviani, M.1    Gellera, C.2    Antozzi, C.3    Rimoldi, M.4    Morandi, L.5    Villani, F.6    Tiranti, V.7    Di Donate, S.8
  • 24
    • 0028136626 scopus 로고
    • Non-isotopic and sensitive method for diagnosis of maternally-inherited diabetes and deafness
    • Blanche H., Froguel P, Dausset J., Cohen D., Cohen N.: Non-isotopic and sensitive method for diagnosis of maternally-inherited diabetes and deafness. Diabetologia 37: 842,1994.
    • (1994) Diabetologia , vol.37 , pp. 842
    • Blanche, H.1    Froguel, P.2    Dausset, J.3    Cohen, D.4    Cohen, N.5
  • 26
    • 0026603422 scopus 로고
    • Mutations in mitochondrial tRNA genes: Non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia
    • van den Ouweland J.M.W., Braining G.I., Lindhout D., Wit J., Veldhuyzen B.F.E., Maassen J.A.: Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. Nucleic Acids Res. 20: 679-682, 1992.
    • (1992) Nucleic Acids Res. , vol.20 , pp. 679-682
    • Van Den Ouweland, J.M.W.1    Braining, G.I.2    Lindhout, D.3    Wit, J.4    Veldhuyzen, B.F.E.5    Maassen, J.A.6
  • 27
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • Barrett T., Bundey S.E., Macleod A.F.: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346: 1458-1462, 1995.
    • (1995) Lancet , vol.346 , pp. 1458-1462
    • Barrett, T.1    Bundey, S.E.2    Macleod, A.F.3
  • 28
  • 29
    • 0017125561 scopus 로고
    • Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus - A syndrome
    • Gunn T., Bortolussi R., Little J.M., Andermann F., Fraser F.C., Belmonte M.M.: Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus - a syndrome. J. Pediatr. 89: 565-570, 1976.
    • (1976) J. Pediatr. , vol.89 , pp. 565-570
    • Gunn, T.1    Bortolussi, R.2    Little, J.M.3    Andermann, F.4    Fraser, F.C.5    Belmonte, M.M.6
  • 30
    • 0022468187 scopus 로고
    • Wolfram syndrome: Report of four new cases and a review of literature
    • Fishman L., Ehrlich R.M.: Wolfram syndrome: report of four new cases and a review of literature. Diabetes Care 9: 405-408, 1986.
    • (1986) Diabetes Care , vol.9 , pp. 405-408
    • Fishman, L.1    Ehrlich, R.M.2
  • 31
    • 0025735115 scopus 로고
    • Diabète sucré, diabète insipide, atrophie optique et surdité
    • Paris
    • Labrume B., Benichou J.J.: Diabète sucré, diabète insipide, atrophie optique et surdité. Ann. Pédiatr. (Paris) 38: 249-254, 1991.
    • (1991) Ann. Pédiatr. , vol.38 , pp. 249-254
    • Labrume, B.1    Benichou, J.J.2
  • 32
    • 0014848426 scopus 로고
    • Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes insipidus in one case
    • Ikkos D.G., Fraser G.R., Matsouki-Gavra E., Petrochilos M.: Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes insipidus in one case. Acta Endocrinol 65: 95-102, 1970.
    • (1970) Acta Endocrinol , vol.65 , pp. 95-102
    • Ikkos, D.G.1    Fraser, G.R.2    Matsouki-Gavra, E.3    Petrochilos, M.4
  • 33
    • 0022492483 scopus 로고
    • Wolfram (DIDMOAD) syndrome: A complex long-term problem in management
    • New Series
    • Peden N.R., Gay J.D.L., Jung R.T., Kuwayti K.: Wolfram (DIDMOAD) syndrome: a complex long-term problem in management. Quart. J. Med., New Series 58: 167-180, 1986.
    • (1986) Quart. J. Med. , vol.58 , pp. 167-180
    • Peden, N.R.1    Gay, J.D.L.2    Jung, R.T.3    Kuwayti, K.4
  • 34
    • 0026645259 scopus 로고
    • Three cases of DIDMOAD or Wolfram's syndrome: Urological aspects
    • Thanos A., Farmakis A., Sami Z., Davillas E., Davillas N.: Three cases of DIDMOAD or Wolfram's syndrome: urological aspects. J. Urol. 148: 150-152, 1992.
    • (1992) J. Urol. , vol.148 , pp. 150-152
    • Thanos, A.1    Farmakis, A.2    Sami, Z.3    Davillas, E.4    Davillas, N.5
  • 35
    • 0025853388 scopus 로고
    • DIDMOAD syndrome: A family with three affected siblings
    • Varghese A., Sims B.A.: DIDMOAD syndrome: a family with three affected siblings. The Ulster Med. J. 60: 101-104, 1991.
    • (1991) The Ulster Med. J. , vol.60 , pp. 101-104
    • Varghese, A.1    Sims, B.A.2
  • 36
    • 0029151131 scopus 로고
    • Growth hormone deficiency and empty sella in DIDMOAD syndrome: An endocrine study
    • Soliman A.T., Bappal B., Darwish A., Rajab A., Asfour M.: Growth hormone deficiency and empty sella in DIDMOAD syndrome: an endocrine study. Arch. Dis. Child. 73: 251-253, 1995.
    • (1995) Arch. Dis. Child. , vol.73 , pp. 251-253
    • Soliman, A.T.1    Bappal, B.2    Darwish, A.3    Rajab, A.4    Asfour, M.5
  • 37
    • 0001576832 scopus 로고
    • The relation of spinal cord diseases to gynaecomastia and testicular atrophy
    • Cooper I.S. The relation of spinal cord diseases to gynaecomastia and testicular atrophy. Proc. Mayo Clin. 25: 320-326, 1950.
    • (1950) Proc. Mayo Clin. , vol.25 , pp. 320-326
    • Cooper, I.S.1
  • 40
    • 0002493969 scopus 로고
    • Sideroblastic anemia in man:observation of seventy cases
    • Gibbon B.H., Mollin D.L.:Sideroblastic anemia in man:observation of seventy cases. Br. J. Haematol. 2: 59-69, 1965.
    • (1965) Br. J. Haematol. , vol.2 , pp. 59-69
    • Gibbon, B.H.1    Mollin, D.L.2


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