Article
A clinical and pathologic study of a large Japanese family with Machado‐ Joseph disease tightly linked to the DNA markers on chromosome 14q
1 Jul 1994
Abstract excerpt
The gene locus for Machado-Joseph disease (MJD) has been mapped to chromosome 14q by linkage analysis, mainly using a single large Japanese family. We studied the clinical and neuropathologic findings of this family with MJD, comparing them with those of spinocerebellar ataxia 1 (SCA1) and spinocerebellar ataxia 2 (SCA2) families. The pedigree included 30 affected persons in 125 members of five generations....
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