Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Brain Nerve. 2011 Nov;63(11):1151-60.

[Myotonic dystrophy type 2].

[Article in Japanese]

Author information

  • 1Department of Neurology, National Hospital Organization, Asahikawa Medical Center, Asahikawa-city, Hokkaido, Japan.

Abstract

Myotonic dystrophies (DMs) are autosomal dominant disorders with multisystemic clinical features. DMs are categorized as DM1, caused by a (CTG)n expansion mutation in 19q13, and DM2, caused by a (CCTG)n expansion mutation in 3q21. The clinical features of DM2 are diffuse and proximal dominant weakness, wasting, myotonia, cardiac problems, cataracts, and insulinresistance. DM2 is milder than DM1. We compared the clinical features of both DMs and studied a Japanese patient with DM2 who had expansion mutations different from those usually attributed to the disease and originally discovered by European researchers. The detailed clinical features of the Japanese DM2 patient are described.

PMID:
22068467
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for IGAKU-SHOIN Ltd.
    Loading ...
    Write to the Help Desk