Literature DB >> 7676123

[Molecular genetic study of a family with Kennedy syndrome including a symptomatic heterozygote].

E De Ferron1, M G Le Roux, O Pascal, J P Moisan, J R Fève.   

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.

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Year:  1994        PMID: 7676123

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  1 in total

1.  Sensory involvement in X-linked spino-bulbar muscular atrophy (Kennedy's syndrome): an electrophysiological study.

Authors:  A Polo; F Teatini; S D'Anna; P Manganotti; A Salviati; B Dallapiccola; G Zanette; N Rizzuto
Journal:  J Neurol       Date:  1996-05       Impact factor: 4.849

  1 in total

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