title: A family with PROMM not linked to the recently mapped PROMM locus DM2.
abstract: Proximal myotonic myopathy is an autosomal dominantly inherited multisystem disorder, clinically similar to but genetically distinct from myotonic dystrophy (DM). A recently mapped second locus for myotonic dystrophy was thought to be an attractive candidate locus for PROMM, and this hypothesis was supported by reports of linkage to this locus in some PROMM families. We present a large German pedigree with PROMM in which linkage to this locus could be excluded, showing that PROMM is genetically heterogeneous.
authors.affiliation: Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle/Wittenberg, Halle/Saale, Germany. thomas.wieser@medizin.uni-halle.de
authors.forename: T
authors.initials: T
authors.lastname: Wieser
authors.forename: D
authors.initials: D
authors.lastname: Bönsch
authors.forename: K
authors.initials: K
authors.lastname: Eger
authors.forename: W
authors.initials: W
authors.lastname: Schulte-Mattler
authors.forename: S
authors.initials: S
authors.lastname: Zierz
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020967:Myotonic Disorders / Q000235:genetics*; D010375:Pedigree