Format

Send to

Choose Destination
See comment in PubMed Commons below
Neuromuscul Disord. 2009 Nov;19(11):759-62. doi: 10.1016/j.nmd.2009.07.012. Epub 2009 Aug 26.

Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2.

Author information

  • 1Department of Neurology, Box 673, University of Rochester Medical Center, Rochester, NY 14642, USA.

Abstract

Types 1 and 2 myotonic dystrophy are neuromuscular disorders caused by genomic expansions of simple sequence repeats. These mutations are unstable in somatic cells, which leads to an age-dependent increase of expansion length. Studies to determine whether changes in repeat size may influence disease severity are limited by the small amount of DNA that can be recovered from tissue biopsies samples. Here we used locked nucleic acid oligonucleotide probes and rolling circle amplification to determine length of the expanded repeat in sub-microgram quantities of genomic DNA. These methods can facilitate genetic analysis in cells and tissues obtained from individuals with myotonic dystrophy.

PMID:
19713112
PMCID:
PMC2767455
DOI:
10.1016/j.nmd.2009.07.012
[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center