Article
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.
Journal of medical genetics - 1 Jan 1995
Twist E C, Casaubon L K, Ruttledge M H, Rao V S, Macleod P M, Radvany J, Zhao Z, Rosenberg R N, Farrer L A, Rouleau G A
Abstract excerpt
Machado Joseph disease (MJD) is an autosomal dominantly inherited neuro-degenerative disorder primarily affecting the motor system. It can be divided into three phenotypes based on the variable combination of a range of clinical symptoms including pyramidal and extra-pyramidal features, cerebellar deficits, and distal muscle atrophy. MJD is thought to be caused by mutation of a single gene which has recently been...
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