Commentary: Heteroplasmy in maternally inherited diabetes and deafness.
作者信息
Panchal Bhavik, Saoji Ketan
机构信息
Department of Vitreoretina and Uveitis Services, L V Prasad Eye Institute, Visakhapatnam, Andhra Pradesh, India.
出版信息
Indian J Ophthalmol. 2020 Jan;68(1):253. doi: 10.4103/ijo.IJO_1296_19.
Abstract
摘要
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本文引用的文献
1
Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram.光学相干断层扫描血管造影评估母系遗传性糖尿病和耳聋患者的外视网膜小管化和内视网膜假囊肿。
Indian J Ophthalmol. 2020 Jan;68(1):250-253. doi: 10.4103/ijo.IJO_577_19.
2
Macular pattern dystrophy in MIDD: long-term follow-up.线粒体糖尿病伴耳聋综合征中的黄斑图案营养不良：长期随访
Diabetes Metab. 2008 Sep;34(4 Pt 1):389-91. doi: 10.1016/j.diabet.2008.05.002. Epub 2008 Jun 30.
3
Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence.通过眼底自发荧光对携带A3243G线粒体DNA点突变患者的黄斑营养不良进行特征描述。
Br J Ophthalmol. 2008 May;92(5):623-9. doi: 10.1136/bjo.2007.131177.
4
Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members.与A3243G线粒体DNA突变相关的黄斑营养不良。独特的视网膜及相关特征、疾病变异性以及无症状家庭成员的特征描述。
Arch Ophthalmol. 2008 Mar;126(3):320-8. doi: 10.1001/archopht.126.3.320.
5
Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group.母系遗传糖尿病和耳聋中黄斑图案营养不良的患病率。GEDIAM研究小组。
Ophthalmology. 1999 Sep;106(9):1821-7. doi: 10.1016/s0161-6420(99)90356-1.
6
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.由线粒体DNA 3243 tRNA（Leu）A到G突变引起的色素性视网膜营养不良以及母系遗传糖尿病和耳聋综合征。
Ophthalmology. 1999 Jun;106(6):1101-8. doi: 10.1016/S0161-6420(99)90244-0.
7
Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.一个患有母系遗传II型糖尿病和耳聋的大家系中线粒体tRNA(Leu)(UUR)基因的突变
Nat Genet. 1992 Aug;1(5):368-71. doi: 10.1038/ng0892-368.
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