Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.
Neurogenetics
; 9(1): 61-3, 2008 Feb.
Article
em En
| MEDLINE
| ID: mdl-18057971
ABSTRACT
Myotonic dystrophy type 2 (DM2) is caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the ZNF9 gene on chromosome 3q21. All studied DM2 mutations have been reported in Caucasians and share an identical haplotype, suggesting a common founder. We identified a Japanese patient with DM2 and showed that the affected haplotype is distinct from the previously identified DM2 haplotype shared among Caucasians. These data strongly suggest that DM2 expansion mutations originate from separate founders in Europe and Japan and are more widely distributed than previously recognized.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Miotônica
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
Neurogenetics
Assunto da revista:
GENETICA
/
NEUROLOGIA
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Japão