Article
Investigations on the point mutations at nt 5460 of the mtDNA in different neurodegenerative and neuromuscular diseases.
European neurology - 1 Jan 1996
Janetzky B, Schmid C, Bischof F, Frölich L, Gsell W, Kalaria R N, Riederer P, Reichmann H
Abstract excerpt
Point mutations of the mitochondrial genome are often considered to be the cause of certain neurodegenerative disorders and mitochondrial myopathies. Recently, there has been a report on Alzheimer's disease (AD) point mutations at position 5460 of the mitochondrial genome located within the ND2 gene. Using allele-specific PCR with a sensitivity of detection of less than 1% mutated mtDNA, we investigated...
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