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Article

Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.

Human genetics - 1 Mar 1994

Twist E C, Farrer L A, Macleod P M, Radvany J, Chamberlain S, Rosenberg R N, Rouleau G A

Abstract excerpt

Machado Joseph disease (MJD) is a progressive, spinocerebellar ataxia (SCA) with an autosomal dominant mode of inheritance and almost complete penetrance. Clinically, it is difficult to distinguish it from other autosomal dominantly inherited ataxias, and it has been suggested that MJD may be caused by an allelic variant of SCA. Exclusion of MJD from the SCA1 locus on chromosome 6p has previously been...

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PMID: 8125487
DOI: 10.1007/BF00212034

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

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Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.PMID 8125487Read ↗

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