Document Detail


Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.
MedLine Citation:
PMID:  18057971     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Tsukasa Saito; Yoshinobu Amakusa; Takashi Kimura; Osamu Yahara; Hitoshi Aizawa; Yoshio Ikeda; John W Day; Laura P W Ranum; Kinji Ohno; Tohru Matsuura
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-12-05
Journal Detail:
Title:  Neurogenetics     Volume:  9     ISSN:  1364-6753     ISO Abbreviation:  Neurogenetics     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2008-01-24     Completed Date:  2009-06-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9709714     Medline TA:  Neurogenetics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  61-3     Citation Subset:  IM    
Affiliation:
Department of Neurology, National Dohoku Hospital, Asahikawa, Japan.
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MeSH Terms
Descriptor/Qualifier:
Age of Onset
Asian Continental Ancestry Group / genetics
DNA Mutational Analysis
DNA Repeat Expansion
European Continental Ancestry Group / genetics
Female
Founder Effect
Haplotypes
Humans
Japan
Microsatellite Repeats
Middle Aged
Myotonic Dystrophy / classification,  genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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