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[Molecular genetic study of a family with Kennedy syndrome including a symptomatic heterozygote]
E De Ferron1, M G Le Roux, O Pascal
1Clinique Neurologique, C.H.R.U. de Nantes.
Revue Neurologique
|December 1, 1994
Abstract:
Four men and one woman of the same family with Kennedy-type-bulbo-spinal amyotrophy have been followed up for 7 to 20 years. The genetic marker: insertion of repeated sequences of trinucleotide Cytosine-Adénine-Guanine described by Fischbeck and La Spada in Nature (1991), in the coding region of the androgen receptor gene, on the long arm of X chromosome, has been demonstrated here by DNA extraction and PCR amplification.