Leber hereditary optic neuropathy

Journal of Medical Genetics

Volumn 39, Issue 3, 2002, Pages 162-169

  Man, P Y W ^a   Turnbull, D M ^a   Chinnery, P F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

BLINDNESS; CELL DEGENERATION; DISEASE ASSOCIATION; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; HEREDITARY OPTIC ATROPHY; HEREDITY; HUMAN; MITOCHONDRIAL GENETICS; OPTIC NERVE; OPTIC NERVE DISEASE; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY CHAIN; RETINA GANGLION CELL; REVIEW; SEX DIFFERENCE; VISION;

EID: 0036201070     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.3.162     Document Type: Review

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104. 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
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120. No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers
121. Tissue specificity of X-chromosome inactivation patterns
122. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
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124. Identical twins who are discordant for Leber's hereditary optic neuropathy
125. Identical twins no longer discordant for Leber's hereditary optic neuropathy
126. Carbon monoxide poisoning as an epigenetic factor for Leber's hereditary optic neuropathy
127. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy
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129. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
130. Folate-responsive optic neuropathy
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133. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?