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Article

Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature.

European journal of human genetics : EJHG - 1 Feb 2015

Ogun Shamsideen Abayomi, Martins Sandra, Adebayo Philip B, Dawodu Clara O, Sequeiros Jorge, Finkel Michael F

Abstract excerpt

Machado-Joseph disease (MJD) has been described in Africans, but no cases have been reported from Nigeria. Current MJD global distribution results from both the ancestral populations-of-origin and the founder effects of mutations, some as a consequence of the Portuguese sea travels in the 15th to 16th century. Two main ancestral haplotypes have been identified: the Machado lineage, which is more recent,...

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Identifiers

PMID: 24781759
DOI: 10.1038/ejhg.2014.77
PMCID: PMC4297905

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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.

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