Macular distrophy, maternally inherited diabetes and deafness due to mutation of mitochondrial DNA

被引：0
|
作者：
Segato, T [1 ]
Visona, M [1 ]
Midena, E [1 ]
机构：
[1] UNIV PADUA,INST OPHTHALMOL,I-35100 PADUA,ITALY
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 1997年 / 38卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：3706 / 3706
页数：1
相关论文
共 50 条
  • [1] Maternally inherited diabetes and deafness: A diabetic subtype associated with a mutation in mitochondrial DNA
    Maassen, JA
    vandenOuweland, JMW
    tHart, LM
    LEmkes, HHPJ
    [J]. HORMONE AND METABOLIC RESEARCH, 1997, 29 (02) : 50 - 55
  • [2] A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness
    Bannwarth, Sylvie
    Abbassi, Meriame
    Valero, Rene
    Fragaki, Konstantina
    Dubois, Noemie
    Vialettes, Bernard
    Paquis-Flucklinger, Veronique
    [J]. DIABETES CARE, 2011, 34 (12) : 2591 - 2593
  • [3] Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness
    Tsang, Stephen H.
    Aycinena, Alicia R. P.
    Sharma, Tarun
    [J]. ATLAS OF INHERITED RETINAL DISEASES, 2018, 1085 : 163 - 165
  • [4] Mitochondrial DNA variations in patients with maternally inherited diabetes and deafness syndrome
    Perucca-Lostanlen, D
    Narbonne, H
    Hernandez, JB
    Staccini, P
    Saunieres, A
    Paquis-Flucklinger, V
    Vialettes, B
    Desnuelle, C
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2000, 277 (03) : 771 - 775
  • [5] Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD)
    Guillausseau, PJ
    Dubois-Laforgue, D
    Massin, P
    Laloi-Michelin, M
    Bellanné-Chantelot, C
    Gin, H
    Bertin, E
    Blickle, J
    Bauduceau, B
    Bouhanick, B
    Cahen-Varsaux, J
    Casanova, S
    Charpentier, G
    Chedin, P
    Derrien, C
    Grimaldi, A
    Guerci, B
    Kaloustian, E
    Lorenzini, F
    Murat, A
    Olivier, F
    Paques, M
    Paquis-Flucklinger, V
    Tielmans, A
    Vincenot, M
    Vialettes, B
    Timsit, J
    [J]. DIABETES & METABOLISM, 2004, 30 (02) : 181 - 186
  • [6] Maternally Inherited Spastic Paraplegia Due to a Mitochondrial DNA Mutation
    Verny, Christophe
    Prundean, Adriana
    Gueguen, Naig
    Desquiret, Valerie
    Dubas, Frederic
    Chevrollier, Arnaud
    Amati-Bonneau, Patrizia
    Bonneau, Dominique
    Reynier, Pascal
    Procaccio, Vincent
    [J]. NEUROLOGY, 2010, 74 (09) : A264 - A264
  • [7] A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness
    Chen, F. L.
    Liu, Y.
    Song, X. Y.
    Hu, H. Y.
    Xu, H. B.
    Zhang, X. M.
    Shi, J. H.
    Hu, J.
    Shen, Y.
    Lu, B.
    Wang, X. C.
    Hu, R. M.
    [J]. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2006, 602 (1-2) : 26 - 33
  • [8] Mitochondrial DNA heteroplasmy of the m.3243A>G mutation in maternally inherited diabetes and deafness
    Rodrigo Cataldo, Luis
    Olmos, Pablo
    Valerie Smalley, Susan
    Diez, Alberto
    Parada, Alejandra
    Gejman, Roger
    Fadic, Ricardo
    Luis Santos, Jose
    [J]. REVISTA MEDICA DE CHILE, 2013, 141 (03) : 305 - 312
  • [9] A mitochondrial DNA mutation associated with maternally inherited deafness and Parkinson's disease
    Shoffner, JM
    Brown, MD
    Huoponen, K
    Stugard, C
    Koontz, D
    Kaufman, A
    Graham, J
    Juncos, J
    Watts, RL
    Wallace, DC
    [J]. NEUROLOGY, 1996, 46 (02) : 31002 - 31002
  • [10] Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation
    M. Arai
    Shin-ichi Ohshima
    [J]. Journal of Neurology, 1997, 244 : 468 - 469
12345