Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds.

@article{Soong1997MachadoJosephDC,
  title={Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds.},
  author={Bing-wen Soong and C H Cheng and R Liu and Din-e Shan},
  journal={Annals of neurology},
  year={1997},
  volume={41 4},
  pages={446-52}
}
Machado-Joseph disease, an autosomal dominant multisystem motor degeneration, has been described mainly in people of Portuguese descent. Our report documents the presence of Machado-Joseph disease in the Chinese population, based on the specific molecular marker of a CAG repeat array in the 3' end of the MJD gene. We screened 21 Chinese families with dominant spinocerebellar ataxia. The results showed that Machado-Joseph disease with CAG expansion accounted for 52% of families with autosomal… CONTINUE READING

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