Giant SCA8 alleles in nine children whose mother has two moderately large ones.
case_report · Level V
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- Record sourced from PubMed, PMID 15786481.
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Abstract
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 FRDA gene 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.
Medical subject headings
- Nerve Tissue Proteins
- Spinocerebellar Degenerations
- Trinucleotide Repeat Expansion