Publication: Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
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Spiegel, R., La Spada, A. R., Kress, W., Fischbeck, K. H., & Schmid, W. (1996). Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Human Mutation, 8, 32–37. https://doi.org/10.1002/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.0.CO;2-R
Abstract
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Abstract
Expansion of trinucleotide repeats has now been associated with eight inherited diseases: X-linked spinal and bulbar muscular atrophy, two fragile X syndromes, myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral pallidoluysian atrophy and Machado-Joseph disease. It has been shown that these expanded DNA repeats are unstable in number when transmitted from parents to offspring (“meiotic instability”), while somatic variation in repeat number has also been found in the fragile X syndrome and myotonic d
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- Spiegel, Roland
- La Spada, Albert R
- Kress, Wolfram
- Fischbeck, Kenneth H
- Schmid, Werner
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Spiegel, R., La Spada, A. R., Kress, W., Fischbeck, K. H., & Schmid, W. (1996). Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Human Mutation, 8, 32–37. https://doi.org/10.1002/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.0.CO;2-R
