Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families
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Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
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Publisher
Berlin/Heidelberg: Springer-Verlag
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Scope and Contents
Contents
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 d...
Alternative Titles
Full title
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families
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TN_cdi_proquest_journals_222647447
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_222647447
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-007-0110-4
