Title : Genotype-phenotype correlation in CAG-repeat diseases.

Pub. Date : 2002 Dec

PMID : 12564773






1 Functional Relationships(s)
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1 Recent immunohistochemical studies have revealed that diffuse intranuclear accumulation of mutant proteins with expanded polyglutamine stretches is a significant pathology in DRPLA, and involves a wide range of the CNS regions far beyond the lesion distribution previously established by neuronal loss. polyglutamine atrophin 1 Homo sapiens