[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].

@article{Ji2011TheMN,
  title={[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].},
  author={Yan-chun Ji and Xiaoling Liu and Fu-xin Zhao and Juan-juan Zhang and Yu Zhang and Xiang-tian Zhou and Jia Qu and Min-Xin Guan},
  journal={Yi chuan = Hereditas},
  year={2011},
  volume={33 4},
  pages={322-8}
}
Leber's hereditary optic neuropathy (LHON) associated with mitochondrial DNA mutation is a maternally inherited eye disease. We reported here the clinical, genetic and molecular characterization of two Han Chinese families with Leber's hereditary optic neuropathy. Ophthalmologic examinations revealed that the variable severity and age-of-onset in visual impairment among probands and other matrilineal relatives of these families. Strikingly, there were extremely low penetrances of visual… CONTINUE READING

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The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
Leber 's hereditary optic neuropathy ( LHON ) associated with mitochondrial DNA mutation is a maternally inherited eye disease .
Leber 's hereditary optic neuropathy ( LHON ) associated with mitochondrial DNA mutation is a maternally inherited eye disease .
Leber 's hereditary optic neuropathy ( LHON ) associated with mitochondrial DNA mutation is a maternally inherited eye disease .
Leber 's hereditary optic neuropathy ( LHON ) associated with mitochondrial DNA mutation is a maternally inherited eye disease .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
Leber 's hereditary optic neuropathy ( LHON ) associated with mitochondrial DNA mutation is a maternally inherited eye disease .
Leber 's hereditary optic neuropathy ( LHON ) associated with mitochondrial DNA mutation is a maternally inherited eye disease .
Leber 's hereditary optic neuropathy ( LHON ) associated with mitochondrial DNA mutation is a maternally inherited eye disease .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
The ND5 T12338C mutation resulted in replacement of the first amino acid , translation - initiating methionine with a threonine , and shortening two amino acids of ND5 .
[ The mitochondrial ND5 T12338C mutation may be associated with Leber 's hereditary optic neuropathy in two Chinese families ] .
Leber 's hereditary optic neuropathy ( LHON ) associated with mitochondrial DNA mutation is a maternally inherited eye disease .
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