Article
Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders.
Journal of neuropathology and experimental neurology - 1 Jun 2011
Hunsaker Michael R, Greco Claudia M, Tassone Flora, Berman Robert F, Willemsen Rob, Hagerman Randi J, Hagerman Paul J
Abstract excerpt
The FMR1 gene is polymorphic for the length of CGG trinucleotide repeat expansions in the 5' untranslated region. Premutation (55-200 CGG repeats) and full-mutation (>200 CGG repeats) alleles give rise to their respective disorders by different pathogenic mechanisms: RNA gain-of-function toxicity...
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