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• W2130295377 startingPage "6206" @default.
• W2130295377 abstract "A five-generation Hispanic family expressing maternally transmitted Leber hereditary optic neuropathy and/or early-onset dystonia associated with bilateral basal ganglia lesions was studied. Buffy coat mitochondrial DNA (mtDNA) from a severely affected child was amplified by the polymerase chain reaction and greater than 90% sequenced. The mtDNA proved to be a Native American haplogroup D genotype and differed from the standard Cambridge sequence at 40 nucleotide positions. One of these variants, a G-to-A transition at nucleotide pair (np) 14459, changed a moderately conserved alanine to a valine at NADH dehydrogenase subunit 6 (ND6) residue 72. The np 14459 variant was not found in any of 38 Native American haplogroup D mtDNAs, nor was it detected in 108 Asian, 103 Caucasian, or 99 African mtDNAs. Six maternal relatives in three generations were tested and were found to harbor the mutation, with one female affected with Leber hereditary optic neuropathy being heteroplasmic. Thus, the np 14459 G-to-A missense mutation is specific to this family, alters a moderately conserved amino acid in a complex I gene, is a unique mtDNA variant in Native American haplogroup D, and is heteroplasmic, suggesting that it is the disease-causing mutation." @default.
• W2130295377 created "2016-06-24" @default.
• W2130295377 creator A5059376643 @default.
• W2130295377 creator A5085274471 @default.
• W2130295377 creator A5089777135 @default.
• W2130295377 date "1994-06-21" @default.
• W2130295377 modified "2023-10-01" @default.
• W2130295377 title "A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia." @default.
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• W2130295377 doi "https://doi.org/10.1073/pnas.91.13.6206" @default.
• W2130295377 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/44167" @default.
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