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Third-party-funded project

Title:
Proximal myotonic myopathy: Clinical and genetic aspects of proximal myotonic myopathy

Project management at the University of Würzburg:

Participating scientists:

Abstract:
PROMM has been described as a new clinical syndrome by Ricker et al. in 1994. Inbetween an expanding spectrum of clinical features of the disease has been described (1, 3, 5-8).
In several PROMM families linkage analysis for linkage to the gene locus of myotonic dystrophy type 2 on chromosome 3q was performed (2, 4). It came out that most, but no all of the German families tested mapped to chromosome 3q. In the 3q linked families we analysed 14 mother-child pairs and 13 father-child pairs for the age of disease onset and found an significant earlier disease onset in the younger generation suggesting that anticipation does occur also in PROMM (5). Recently, in cooperation with the group of Laura Ranum the genetic defect in DM2/PROMM was identified (9). The mutation is a huge instable CCTG repeat expansion in intron of the ZNF 9 gene on chromosome 3q.

Key words:
    anticipation
    proximal myotonic myopathy
    myotonic dystrophy type II
    repeatexpansion

Projekt period: from 06.1995 to 06.2003

Publications: