Send to

Choose Destination
See comment in PubMed Commons below
Neurology. 2002 Dec 10;59(11):1783-6.

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.

Author information

Department of Neurology, Medical University of Lübeck, Germany.


Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Support Center