title: [Molecular genetic study of a family with Kennedy syndrome including a symptomatic heterozygote].
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.
authors.affiliation: Clinique Neurologique, C.H.R.U. de Nantes.
authors.forename: E
authors.initials: E
authors.lastname: De Ferron
authors.forename: M G
authors.initials: MG
authors.lastname: Le Roux
authors.forename: O
authors.initials: O
authors.lastname: Pascal
authors.forename: J P
authors.initials: JP
authors.lastname: Moisan
authors.forename: J R
authors.initials: JR
authors.lastname: Fève
mesh_terms: D000328:Adult; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
chemical_list: D011944:Receptors, Androgen
vernacular_title: Etude génétique moléculaire d'une famille atteinte du syndrome de Kennedy avec une hétérozygote symptomatique.