NDLI: Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families

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Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families

Content Provider	Springer Nature Link
Author	Saito, Tsukasa Amakusa, Yoshibu Kimura, Takashi Yahara, Osamu Aizawa, Hitoshi Ikeda, Yoshio Day, John W. Ranum, Laura P. W. Oh, Kinji Matsuura, Tohru
Copyright Year	2007
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.
Starting Page	61
Ending Page	63
Page Count	3
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	9
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2007-12-05
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Myotonic dystrophy type 2 CCTG tetranucleotide repeat expansion Founder haplotype Molecular Medicine Human Genetics Neurosciences
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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