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[DNA-diagnosis of bulbospinal muscular atrophy (Kennedy's disease)].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 1997

Malygina N A, Kazakov A E, Dubchak L V

Abstract excerpt

Bulbospinal muscular atrophy--a rare disease with X-linked recessive type of inheritance. It is caused by expansion of trinucleotide repetitions in the gene of androgenic receptor (AR). We elaborated a method of DNA-testing with usage of nonradioactive registration of mutant alleles of AR gene. DNA-diagnosis was performed in 16 patients with clinical pattern of bulbospinal muscular atrophy and diagnosis was...

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PMID: 9591063

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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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[DNA-diagnosis of bulbospinal muscular atrophy (Kennedy's disease)].PMID 9591063Read ↗

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Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families.Semantic proximity Read ↗

[Direct DNA diagnosis of Friedreich's ataxia].Semantic proximity Read ↗

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