Article
[The DNA diagnosis of a familial case of Kennedy's spinal and bulbar amyotrophy].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 1997
Petrukhin A S, Zavadenko N N, Petrukhin A A, Evgrafov O V
Abstract excerpt
Seven relatives of previously described proband with X-linked Kennedy's spinal and bulbar muscular atrophy (SBMA) were investigated by means of clinical, biochemical and molecular genetic methods. The patients' age was 13-70 years. Clinical and biochemical investigations revealed SBMA in two males. Molecular genetic analysis by means of polymerase chain reaction (PCR) revealed pathological expansion of...
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