Trinucleotide repeats: mechanisms and pathophysiology.

doi:10.1146/annurev.genom.1.1.281

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Article

Trinucleotide repeats: mechanisms and pathophysiology.

Annual review of genomics and human genetics - 1 Jan 2000

Cummings C J, Zoghbi H Y

Abstract excerpt

Within the closing decade of the twentieth century, 14 neurological disorders were shown to result from the expansion of unstable trinucleotide repeats, establishing this once unique mutational mechanism as the basis of an expanding class of diseases. Trinucleotide repeat diseases can be categorized into two subclasses based on the location of the trinucleotide repeats: diseases involving noncoding repeats...

Topics

Female
Fragile X Syndrome
Friedreich Ataxia
Humans
Huntington Disease
Machado-Joseph Disease
Male
Minisatellite Repeats
Muscular Disorders, Atrophic
Mutation
Myotonic Dystrophy
Nervous System Diseases
Peptides
Spinocerebellar Ataxias
Trinucleotide Repeats

Source

Open in PubMed

Identifiers

PMID: 11701632
DOI: 10.1146/annurev.genom.1.1.281

Provenance

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