|
1
|
Carelli V, Ross-Cisneros FN and Sadun AA:
Mitochondrial dysfunction as a cause of optic neuropathies. Prog
Retin Eye Res. 23:53–89. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Fraser JA, Biousse V and Newman NJ: The
neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol.
55:299–334. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Sitarz KS, Chinnery PF and Yu-Wai-Man P:
Disorders of the optic nerve in mitochondrial cytopathies: new
ideas on pathogenesis and therapeutic targets. Curr Neurol Neurosci
Rep. 12:308–317. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Leber T: Ueber hereditaere und congenital
angelegte sehnervenleiden. Graefes Arch Clin Exp Ophthalmol.
17:249–91. 187
|
|
5
|
Wallace DC, Singh G, Lott MT, et al:
Mitochondrial DNA mutation associated with Leber’s hereditary optic
neuropathy. Science. 242:1427–1430. 1988. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Mackey DA, Oostra RJ, Rosenberg T, et al:
Primary pathogenic mtDNA mutations in multigeneration pedigrees
with Leber hereditary optic neuropathy. Am J Hum Genet. 59:481–485.
1996.PubMed/NCBI
|
|
7
|
Brandon MC, Lott MT, Nguyen KC, et al:
MITOMAP: a human mitochondrial genome database-2004 update. Nucleic
Acids Res. 33:D611–D613. 2005. View Article : Google Scholar
|
|
8
|
Carelli V, La Morgia C, Valentino ML,
Barboni P, Ross-Cisneros FN and Sadun AA: Retinal ganglion cell
neurodegeneration in mitochondrial inherited disorders. Biochim
Biophys Acta. 1787:518–528. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Jia X, Li S, Xiao X, Guo X and Zhang Q:
Molecular epidemiology of mtDNA mutations in 903 Chinese families
suspected with Leber hereditary optic neuropathy. J Hum Genet.
51:851–856. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Yu-Wai-Man P, Griffiths PG and Chinnery
PF: Mitochondrial optic neuropathies-disease mechanisms and
therapeutic strategies. Prog Retin Eye Res. 30:81–114. 2011.
View Article : Google Scholar :
|
|
11
|
Brown MD and Wallace DC: Spectrum of
mitochondrial DNA mutations in Leber’s hereditary optic neuropathy.
Clin Neurosci. 2:134–145. 1994.
|
|
12
|
Tońska K, Kodroń A and Bartnik E:
Genotype-phenotype correlations in Leber hereditary optic
neuropathy. Biochim Biophys Acta. 1797:1119–1123. 2010. View Article : Google Scholar
|
|
13
|
Hudson G, Carelli V, Spruijt L, et al:
Clinical expression of Leber hereditary optic neuropathy is
affected by the mitochondrial DNA-haplogroup background. Am J Hum
Genet. 81:228–233. 2007. View
Article : Google Scholar : PubMed/NCBI
|
|
14
|
Romero P, Fernández V, Slabaugh M, et al:
Pan-American mDNA haplogroups in Chilean patients with Leber’s
hereditary optic neuropathy. Mol Vis. 20:334–340. 2014.
|
|
15
|
Zhang AM, Jia X, Bi R, et al:
Mitochondrial DNA haplogroup background affects LHON, but not
suspected LHON, in Chinese patients. PloS One. 6:e277502011.
View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Meng X, Zhu J, Gao M, et al: The analysis
of mitochondrial DNA haplogroups and variants for Leber’s
hereditary optic neuropathy in Chinese families carrying the
m.14484T >C mutation. Yi Chuan. 36:336–345. 2014.In Chinese.
PubMed/NCBI
|
|
17
|
Rieder MJ, Taylor SL, Tobe VO and
Nickerson DA: Automating the identification of DNA variations using
quality-based fluorescence re-sequencing: analysis of the human
mitochondrial genome. Nucleic Acids Res. 26:967–973. 1998.
View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Zhang S, Wang L, Hao Y, et al: T14484C and
T14502C in the mitochondrial ND6 gene are associated with Leber’s
hereditary optic neuropathy in a Chinese family. Mitochondrion.
8:205–210. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL
and Zhang YP: Phylogeny of east Asian mitochondrial DNA lineages
inferred from complete sequences. Am J Hum Genet. 73:671–676. 2003.
View Article : Google Scholar : PubMed/NCBI
|
|
20
|
van Oven M and Kayser M: Updated
comprehensive phylogenetic tree of global human mitochondrial DNA
variation. Hum Mutat. 30:E386–E394. 2009. View Article : Google Scholar
|
|
21
|
Lange C, Feltgen N, Junker B,
Schulze-Bonsel K and Bach M: Resolving the clinical acuity
categories ̔hand motion̓ and ̔counting fingers̓ using the Freiburg
Visual Acuity Test (FrACT). Graefes Arch Clin Exp Ophthalmol.
247:137–142. 2009. View Article : Google Scholar
|
|
22
|
Carelli V, Ross-Cisneros FN and Sadun AA:
Mitochondrial dysfunction as a cause of optic neuropathies. Prog
Retin Eye Res. 23:53–89. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Fraser JA, Biousse V and Newman NJ: The
neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol.
55:299–334. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Zhang J, Zhou X, Zhou J, et al:
Mitochondrial ND6 T14502C variant may modulate the phenotypic
expression of LHON-associated G11778A mutation in four Chinese
families. Biochem Biophys Res Commun. 399:647–653. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Qu J, Li R, Tong Y, et al: Only male
matrilineal relatives with Leber’s hereditary optic neuropathy in a
large Chinese family carrying the mitochondrial DNA G11778A
mutation. Biochem Biophys Res Commun. 328:1139–1145. 2005.
View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Qian Y, Zhou X, Hu Y, et al: Clinical
evaluation and mitochondrial DNA sequence analysis in three Chinese
families with Leber’s hereditary optic neuropathy. Biochem Biophys
Res Commun. 332:614–621. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Qu J, Zhou X, Zhang J, et al: Extremely
low penetrance of Leber’s hereditary optic neuropathy in 8 Han
Chinese families carrying the ND4 G11778A mutation. Ophthalmology.
116:558–564. e32009. View Article : Google Scholar
|
|
28
|
Zhang M, Zhou X, Li C, et al:
Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a
modifying role in the phenotypic expression of the LHON-associated
ND4 G11778A mutation. Mol Genet Metab. 101:192–199. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Torroni A, Petrozzi M, D’Urbano L, et al:
Haplotype and phylogenetic analyses suggest that one
European-specific mtDNA background plays a role in the expression
of Leber hereditary optic neuropathy by increasing the penetrance
of the primary mutations 11778 and 14484. Am J Hum Genet.
60:1107–1121. 1997.PubMed/NCBI
|
|
30
|
Giordano C, Montopoli M, Perli E, et al:
Oestrogens ameliorate mitochondrial dysfunction in Leber’s
hereditary optic neuropathy. Brain. 134:220–234. 2011. View Article : Google Scholar :
|
|
31
|
Yu-Wai-Man P, Griffiths PG, Hudson G and
Chinnery PF: Inherited mitochondrial optic neuropathies. J Med
Genet. 46:145–158. 2009. View Article : Google Scholar :
|
|
32
|
Giordano C, Montopoli M, Perli E, et al:
Oestrogens ameliorate mitochondrial dysfunction in Leber’s
hereditary optic neuropathy. Brain. 134:220–234. 2011. View Article : Google Scholar :
|
|
33
|
Badura-Stronka M, Wawrocka A, Zawieja K,
Silska S and Krawczyński MR: Severe manifestation of Leber’s
hereditary optic neuropathy due to 11778 G A mtDNA mutation in a
female with hypoestrogenism due to Perrault syndrome.
Mitochondrion. 13:831–834. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Istikharah R, Tun AW, Kaewsutthi S, et al:
Identification of the variants in PARL, the nuclear modifier gene,
responsible for the expression of LHON patients in Thailand. Exp
Eye Res. 116:55–57. 2013. View Article : Google Scholar : PubMed/NCBI
|
