Kennedy disease overview: Difference between revisions
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==Overview== | ==Overview== | ||
Kennedy's disease is a neuromuscular disease associated with mutations of the [[androgen receptor]] (AR). Because of its endocrine manifestations related to the impairment of the AR, it can be viewed as a variation of the disorders of the [[androgen insensitivity syndrome]] (AIS)<ref>La Spada A, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. ''Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.'' Nature 1991;352:77-79.</ref><ref>Fischbeck KH, Lieberman A, Bailey CK, Abel A, Merry DE. ''Androgen receptor mutation in Kennedy's disease.'' Phil Trans R Soc Lond B 1999;354:1075-1078.</ref><ref>Chen CJ, Fischbeck KH: Clinical aspects and the genetic and molecular biology of Kennedy's disease. In: Wells RD, Ashizawa T (eds.): Genetic Instabilities and Neurological Diseases, Second Edition. San Diego, Academic Press/Elsevier, 2006.</ref>. | |||
==References== | ==References== | ||
Latest revision as of 18:38, 19 September 2012
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Overview
Kennedy's disease is a neuromuscular disease associated with mutations of the androgen receptor (AR). Because of its endocrine manifestations related to the impairment of the AR, it can be viewed as a variation of the disorders of the androgen insensitivity syndrome (AIS)[1][2][3].
References
- ↑ La Spada A, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.
- ↑ Fischbeck KH, Lieberman A, Bailey CK, Abel A, Merry DE. Androgen receptor mutation in Kennedy's disease. Phil Trans R Soc Lond B 1999;354:1075-1078.
- ↑ Chen CJ, Fischbeck KH: Clinical aspects and the genetic and molecular biology of Kennedy's disease. In: Wells RD, Ashizawa T (eds.): Genetic Instabilities and Neurological Diseases, Second Edition. San Diego, Academic Press/Elsevier, 2006.