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单词 Leber's Hereditary Optic Atrophy
释义

Leber's Hereditary Optic Atrophy


《英文msh词典》Leber's Hereditary Optic Atrophy
[入口词] Leber's Hereditary Optic Atrophy
[主题词] Optic Atrophy,Hereditary,Leber
[英文释义] A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA,in genes for Complex I,III,and IV polypeptides,that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man,http://www.ncbi.nlm.nih.gov/Omim/,MIM#535000 (April 17,2001))
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