Proximal myotonic myopathy: Clinical and genetic aspects of proximal myotonic myopathy
Project management at the University of Würzburg:
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.
proximal myotonic myopathy
myotonic dystrophy type II
from 06.1995 to 06.2003
- Ricker K.
(1999). Myotonic dystrophy and proximal myotonic myopathy.. J Neurol, 2,653. (scientific article)
- Ricker K, Grimm T, Koch MC, Schneider C, Kress W, Reimers CD, Schulte-Mattler W, Mueller-Myhsok B, Toyka KV, Mueller CR.
(1999). Linkage of proximal myotonic myopathy to chromosome 3q. Neurology, 5,212. (scientific article)
- Ricker K..
(2000). The expanding clinical and genetic spectrum of the myotonic dystrophies. Acta Neurol Belg, 0,521. (scientific article)
- Kress W, Mueller-Myhsok B, Ricker K, Schneider C, Koch MC, Toyka KV, Mueller CR, Grimm T.
(2000). Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2). Neuromusc Disord, 2,547. (scientific article)
- Schneider C, Ziegler A, Ricker K, Grimm T, Kress W, Reimers CD, Meinck HM, Reiners K, Toyka KV..
(2000). Proximal myotonic myopathy: evidence for anticipation in 3q linked families. Neurology, 5,212. (scientific article)
- Schneider C, Wessig C, Müller CR, Brechtelsbauer D, Grimm T.
(2001). Proximal myotonic myopathy and proximal myotonic dystrophy: Phenotypic variability in proximal myotonic syndromes. Neuromusc Disord, 2,547. (scientific article)
- Schneider C, Reiners K, Toyka KV.
(2001). Myotone Dystrophie (Curschmann-Steinert-Erkrankung) und Proximale Myotone Myopathie (PROMM/Ricker-Syndrom). Nervenarzt, 0,916. (scientific article)
- Schneider C, Pedrosa Gil F, Schneider M, Anetseder M, Kress W, Müller CR.
(2001). Intolerance towards neuroleptics and susceptibility for malignant hyperthermia in a patient with proximal myotonic myopathy and schizophrenia. Neuromusc Disord, 2,547. (scientific article)
- Liquori CL, Ricker K, Moseley ML, Jacobson JF, Kress W, Naylor SL, Day JW, Ranum LP.
(2001). Myotonic dystrophy type 2 is caused by a CCTG repeat expansion in intron 1 of ZNF9. Science, 23,329. (scientific article)