Format

Send to

Choose Destination
See comment in PubMed Commons below
J Clin Neurosci. 2004 Aug;11(6):603-5.

Clinical and genetic analysis of a family with PROMM.

Author information

1
Laboratory of Neurogenetics, New Jersey Neuroscience Institute, Seton Hall University, Edison, NJ 08818, USA. rgrewal@solarishs.org

Abstract

PROMM (proximal myotonic myopathy) and DM2 (myotonic dystrophy Type 2) are autosomal dominant multisystem disorders that have both been linked to chromosome 3q. Recently, the genetic basis of DM2 has been defined by a '(CCTG)(n)' expansion mutation in intron 1 of the ZNF9 gene. We identified and studied a multigenerational family in which five members had clinical features consistent with PROMM. Two affected members were available for detailed clinical, electrophysiological, radiological and genetic analysis. Our study confirms that the PROMM phenotype is associated with DM2-(CCTG)(n) expansion mutations. In addition, our results may extend the clinical spectrum of manifestations to include vestibular symptoms.

PMID:
15261229
DOI:
10.1016/j.jocn.2003.09.014
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center