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Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.
Am J Hum Genet. 1996 Jul;59(1):103-8.
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X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.
Proc Natl Acad Sci U S A. 1991 Sep 15;88(18):8198-202. doi: 10.1073/pnas.88.18.8198.
4
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
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Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.
Am J Hum Genet. 1995 Jul;57(1):77-86.
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Leber hereditary optic neuropathy: estimation of number of embryonic precursor cells and disease threshold in heterozygous affected females at the X-linked locus.
Clin Genet. 1992 Sep;42(3):143-8. doi: 10.1111/j.1399-0004.1992.tb03226.x.
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Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.
Am J Hum Genet. 1991 Mar;48(3):486-91.
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Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities.
Cytogenet Cell Genet. 1999;86(2):153-6. doi: 10.1159/000015370.
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No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.
Hum Genet. 1996 Apr;97(4):500-5. doi: 10.1007/BF02267075.
引用本文的文献
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Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.
Brain. 2011 Jan;134(Pt 1):220-34. doi: 10.1093/brain/awq276. Epub 2010 Oct 13.
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Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11.
3
Mitochondria.
J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1188-99. doi: 10.1136/jnnp.74.9.1188.
4
Leber hereditary optic neuropathy.
J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162.
5
Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy.
J Med Genet. 1998 Aug;35(8):668-71. doi: 10.1136/jmg.35.8.668.
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Antibodies to human optic nerve in Leber's hereditary optic neuropathy.
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The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees.
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Faster sequential genetic linkage computations.
Am J Hum Genet. 1993 Jul;53(1):252-63.
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Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes.
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The pseudoautosomal regions of the human sex chromosomes.
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Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.
Am J Hum Genet. 1994 Jun;54(6):989-1003.
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Tissue specificity of X-chromosome inactivation patterns.
Blood. 1994 May 15;83(10):2899-905.
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Identification of internal variation in the pseudoautosomal VNTR DXYS17, with nonrandom distribution of the alleles on the X and the Y chromosomes.
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Avoiding recomputation in linkage analysis.
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