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Article

Natural selection at the MJD locus: phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores.

Journal of biosocial science - 1 Jul 2001

Lima M, Smith M T, Silva C, Abade A, Mayer F M, Coutinho P

Abstract excerpt

Machado-Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset, associated with the expansion of a (CAG)n tract in the coding region of the causative gene, localized on 14q32.1. Machado-Joseph Disease shows non-Mendelian features typical of other triplet repeat disorders, including clinical heterogeneity, variable age at onset and anticipation. Three phenotypes have been proposed...

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PMID: 11446399
DOI: 10.1017/s0021932001003613

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Natural selection at the MJD locus: phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores.PMID 11446399Read ↗

Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).Semantic proximity Read ↗

The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease.Semantic proximity Read ↗

Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.Semantic proximity Read ↗

Allele-specific expression of <i>ATXN3</i> in blood samples of Machado-Joseph disease expansion carriersSemantic proximity Read ↗

Selective forces acting on spinocerebellar ataxia type 3/Machado-Joseph disease recurrency: A systematic review and meta-analysis.Semantic proximity Read ↗

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph diseaseSemantic proximity Read ↗

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.Semantic proximity Read ↗

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.Semantic proximity Read ↗

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.Semantic proximity Read ↗

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.Semantic proximity Read ↗

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.Semantic proximity Read ↗

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.Semantic proximity Read ↗

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