X-linked recessive bulbospinal neuronopathy: clinical phenotypes and CAG repeat size in androgen receptor gene.

@article{Shimada1995XlinkedRB,
  title={X-linked recessive bulbospinal neuronopathy: clinical phenotypes and CAG repeat size in androgen receptor gene.},
  author={Noritomo Shimada and Gen Sobue and Manabu Doyu and Koichi Yamamoto and Takeshi Yasuda and Eiichirou Mukai and Teruhiko Kachi and Terunori Mitsuma},
  journal={Muscle & nerve},
  year={1995},
  volume={18 12},
  pages={1378-84}
}
Clinical phenotypes and the CAG repeat size of the androgen receptor gene were assessed in 95 Japanese patients with X-linked recessive bulbospinal neuronopathy. There was an age- and duration-dependent deterioration of muscle strength, ADL scores, and plasma creatine kinase levels. However, there was no correlation between the presence of absence of gynecomastia or diabetes mellitus and the age at onset or duration of illness. Correlations were present between the CAG repeat size and the age… CONTINUE READING

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