Article
The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.
European journal of human genetics : EJHG - 1 Jan 1994
Tatuch Y, Pagon R A, Vlcek B, Roberts R, Korson M, Robinson B H
Abstract excerpt
The point mutation at bp 8993 of human mtDNA in the ATPase 6 gene is associated with neurogenic weakness, ataxia and retinitis pigmentosa, and with subacute necrotizing encephalomyelopathy (Leigh disease) when present at high copy number. In this study we describe three new multiplex families with the ATPase 8993 mtDNA mutation and demonstrate a correlation between the percentage heteroplasmy of this mutation and...
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