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[DNA diagnosis of X-linked recessive bulbospinal muscular atrophy by androgen receptor gene mutations].

Rinsho shinkeigaku = Clinical neurology - 1 Mar 1992

Doyu M, Sobue G, Mukai E, Takahashi A, Mitsuma T

Abstract excerpt

X-linked recessive bulbospinal muscular atrophy (BSMA) is an adult-onset form of motor neuron disease, of which androgen receptor (AR) gene mutations with increased size of a polymorphic tandem CAG repeat in the coding region was found by Fischbeck et al (1991). We investigated this AR gene abnormality by polymerase chain reaction (PCR) in 16 unrelated Japanese BSMA pedigrees, including 21 patients, 11 male...

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PMID: 1628462

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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