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Article

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.

Neurology - 1 Apr 1993

Amato A A, Prior T W, Barohn R J, Snyder P, Papp A, Mendell J R

Abstract excerpt

We confirmed a mutation of the androgen receptor gene as the cause for Kennedy's disease, also called "X-linked recessive spinal and bulbar muscular atrophy" or "bulbospinal neuronopathy." The mutation is characterized by an increased size of a polymorphic tandem CAG repeat within the first exon of the gene. The study population consisted of 17 patients from seven families (five distinct kinships and two isolated...

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Identifiers

PMID: 8469342
DOI: 10.1212/wnl.43.4.791

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.PMID 8469342Read ↗

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 ↗

Spinal and bulbar muscular atrophy: androgen receptor dysfunction caused by a trinucleotide repeat expansion.Semantic proximity Read ↗

Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease.Semantic proximity Read ↗

Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.Semantic proximity Read ↗

[Study on clinical manifestation, genotype and genetic characteristics of two Kennedy disease pedigrees].Semantic proximity Read ↗

Molecular analysis of the androgen receptor gene in Kennedy's disease. Report of two families and review of the literature.Semantic proximity Read ↗

Genotype and clinical phenotype analysis of a Family with Kennedy disease.Semantic proximity Read ↗

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.Semantic proximity Read ↗

Androgen receptor mutation in Kennedy's disease.Semantic proximity Read ↗

Kennedy's disease: pathogenesis and clinical approaches.Semantic proximity Read ↗

CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation.Semantic proximity Read ↗

Perspectives of Kennedy's disease.Semantic proximity Read ↗

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