Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient

被引：6
|
作者：
Strauss, Danielle Savitsky [2 ]
Freund, K. Bailey [1 ,2 ]
机构：
[1] Vitreous Retina Macula Consultants New York, New York, NY 10022 USA
[2] NYU, Sch Med, Dept Ophthalmol, New York, NY USA
来源：
BRITISH JOURNAL OF OPHTHALMOLOGY | 2012年 / 96卷 / 04期
关键词：
MACULAR DYSTROPHY; DNA MUTATION;
D O I：
10.1136/bjophthalmol-2011-300004
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：604 / 609
页数：2
相关论文
共 50 条
  • [1] Demonstration of the A3243G mitochondrial mutation in families with maternally inherited diabetes and deafness
    Thorns, C
    Widjaja, A
    Boeck, N
    Skamira, C
    Zühlke, H
    [J]. DIABETOLOGIA, 1998, 41 : A109 - A109
  • [2] Heteroplasmy of the mitochondrial A3243G mutation and the phenotype of maternally inherited diabetes and deafness.
    van Essen, EHR
    't Hart, LM
    Jansen, JJ
    van den Ouweland, JMW
    Maassen, JA
    Lemkes, HHPJ
    [J]. DIABETOLOGIA, 1998, 41 : A111 - A111
  • [3] Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA
    Lien, LM
    Lee, HC
    Wang, KL
    Chiu, JC
    Chiu, HC
    Wei, YH
    [J]. ACTA NEUROLOGICA SCANDINAVICA, 2001, 103 (03): : 159 - 165
  • [4] Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation
    Komlósi, K
    Kellermayer, R
    Maász, A
    Havasi, V
    Hollódy, K
    Vincze, O
    Merkli, H
    Pál, E
    Melegh, B
    [J]. PATHOLOGY & ONCOLOGY RESEARCH, 2005, 11 (02) : 82 - 86
  • [5] Severe atrophy of the cerebellum on magnetic resonance imaging in a Chinese patient with maternally inherited diabetes and deafness with the A3243G mitochondrial DNA mutation
    Zhi-juan Dai
    Chao-ming Wu
    Yan-ying Qian
    Jian Jin
    Liang Wang
    Lu-ya Ruan
    [J]. International Journal of Diabetes in Developing Countries, 2015, 35 : 588 - 592
  • [6] Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification
    Ji-Hoon Kang
    Sa-Yoon Kang
    Jay-Chol Choi
    Seong-Suk Lee
    Ji-Soo Kim
    [J]. Journal of Neurology, 2005, 252 : 103 - 105
  • [7] Severe atrophy of the cerebellum on magnetic resonance imaging in a Chinese patient with maternally inherited diabetes and deafness with the A3243G mitochondrial DNA mutation
    Dai, Zhi-juan
    Wu, Chao-ming
    Qian, Yan-ying
    Jin, Jian
    Wang, Liang
    Ruan, Lu-ya
    [J]. INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES, 2015, 35 (04) : 588 - 592
  • [8] Chorea triggered by hyperglycaemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification
    Kang, JH
    Kang, SY
    Kwak, KH
    [J]. JOURNAL OF NEUROLOGY, 2004, 251 : 187 - 187
  • [9] Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification
    Kang, JH
    Kang, SY
    Choi, JC
    Lee, SS
    Kim, JS
    [J]. JOURNAL OF NEUROLOGY, 2005, 252 (01) : 103 - 105
  • [10] HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness
    van Essen, EHR
    Roep, BO
    't Hart, LM
    Jansen, JJ
    Van den Ouweland, JMW
    Lemkes, HHPJ
    Maassen, JA
    [J]. DIABETIC MEDICINE, 2000, 17 (12) : 841 - 847
12345