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Unformatted text preview: ) Midlife acute onset of blindness Affects males more than females Missense mutations in complex I Homoplasmic Mutations Pitfalls of Genetic testing for Mitochondrial Disorders Genotype / Phenotype Association Differences in Tissue Distribution Rare Mutations and Nuclear DNA Mutations Polymorphic Variation Criteria of Pathogenicity of a MtDNA Sequence Change Segregation of mutation with phenotype Heteroplasmy Functional impairment Phylogenetic conservation Haplotype divergency of identical mutations...
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- Spring '05