| Autor: |
Corral, Jordi, Genís, David, Banchs, Isabel, San Nicolás, Hector, Armstrong, Judith, Volpini, Víctor |
| Zdroj: |
Annals of Neurology; April 2005, Vol. 57 Issue: 4 p549-553, 5p |
| Abstrakt: |
We report here a family in which each of nine children has inherited giant SCA8 CTG expansions from a homozygous mother who has two moderately large SCA8 CTG alleles. In contrast, three homozygous male individuals and a case of coexistence of two expansions of the FRDAgene and one of SCA8, all of them with moderately large alleles, have transmitted their respective SCA8 expanded alleles with minor changes, as usually occurs in heterozygous male transmissions. Ann Neurol 2005;57:549–553 |
| Databáze: |
Supplemental Index |
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