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 g...
Topics
- Alleles
- Base Sequence
- Brain
- Case-Control Studies
- DNA, Mitochondrial
- Humans
- Mitochondrial Encephalomyopathies
- Molecular Sequence Data
- Muscles
- Nerve Degeneration
- Neuromuscular Diseases
- Point Mutation
- Polymerase Chain Reaction
- Sensitivity and Specificity