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

doi:10.1007/BF00212034

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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 cau...

Topics

Alleles
Cell Line
Chromosomes, Human, Pair 12
Female
Genetic Linkage
Genetic Markers
Humans
Machado-Joseph Disease
Male
Pedigree
Polymerase Chain Reaction
Spinocerebellar Degenerations

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