Cambodian founder effect for spinocerebellar ataxia type 3 (Machado-Joseph disease).

Abstract excerpt

Four families from the same region of Cambodia immigrated to the Pacific Northwest of the United States. All four families have been discovered to have spinocerebellar ataxia type 3 (SCA 3; Machado-Joseph disease) with a similar clinical phenotype. CAG repeat expansions in the ATXN3 gene range from 72 to 77. Mean age of onset has varied from 19 to 44 years and mean age at death of 4 individuals has been 60 years....

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