My NCBISign In

Display Settings:

Format

Send to:

Choose Destination
    Neurogenetics. 2008 Feb;9(1):61-3. Epub 2007 Dec 5.

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

    Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LP, Ohno K, Matsuura T.

    Source

    Department of Neurology, National Dohoku Hospital, Asahikawa, Japan.

    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.

    PMID:
    18057971
    [PubMed - indexed for MEDLINE]

    Publication Types, MeSH Terms

    Publication Types

    MeSH Terms

    LinkOut - more resources

    Full Text Sources

    Other Literature Sources

    Medical

      Supplemental Content

      Icon for Springer

      Save items

      loading

      Related citations in PubMed

      See reviews... See all...

      Cited by 2 PubMed Central articles

      Related information

      • Related Citations
        Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
      • Gene (OMIM)
        Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
      • Nucleotide (Weighted)
        Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
      • OMIM (calculated)
        Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
      • OMIM (cited)
        Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
      • Protein (Weighted)
        Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
      • Cited in PMC
        Full-text articles in the PubMed Central Database that cite the current articles.

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      You are here: NCBI > Literature > PubMed
      Write to the Help Desk