Autosomal dominant myotonic dystrophies;Autosomal dominante myotone dystrophien

Nervenheilkunde

Volumn 18, Issue 10, 1999, Pages 542-546

  Finsterer, J ^a,b  

^a LUDWIG BOLTZMANN INSTITUTE FOR LUNG VASCULAR RESEARCH   (Austria)

^b NONE   (Austria)

Author keywords

CTG repeats; MD2; Myotonic dystrophy; Proximal myotonic myopathy; Trinucleotid disorders

Indexed keywords

MESSENGER RNA; PHOSPHOTRANSFERASE; TRINUCLEOTIDE;

AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 19Q; CHROMOSOME 3Q; GENE MUTATION; HUMAN; MYOTONIC DYSTROPHY; REVIEW; RNA PROCESSING; RNA TRANSLATION; TRINUCLEOTIDE REPEAT;

EID: 0033387857     PISSN: 07221541     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (26)

1. Bhagwati S, Shafiq SA, Xu W. (CTG)n repeats markedly inhibit differentiation of the C2C12 myoblast cell line: implications for congenital myotonic dystrophy. Biochim Biophys Acta 1999; 1453: 221-9.
2. Berul CJ, Maguire CT, Aronovitz MJ, Greenwood J, Miller C, Gehrmann J, Housman D, Mendelsohn ME, Reddy S. DMPK dosage alterations result in arterioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 1999; 103: R1-R7.
3. Chang L; Ernst T, Osborn D, Seltzer W, Leonido-Yee M, Poland RE. Proton spectroscopy in myotonic dystrpophy. Arch Neurol 1998; 55: 305-11.
4. Day JW, Roelofs R, Leroy B, Pech I, Penzow K, Ranum LPW. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromusc Dis 1999; 9: 19-27.
5. Finsterer J, Gharehbaghi-Schnell E, Korschineck I, Fheodoroff K, Seiser A, Löscher W, Mamoli B, Binder B. Phenotype and CTG-repeat size in myotonic dystrophy: a study of 26 patients and 55 relatives. J Neurogenet 1999; (im Druck).
6. Finsterer J, Stöllberger C, Keller H, Slany J, Mamoli B. Cardiac involvement in patients with myotonic dystrophy, Becker's muscular dystrophy and mitochondrial myopathy. Herz 1997; 22: 96-103.
7. Gharehbaghi-Schnell E, Finsterer J, Korschineck I, Mamoli B, Binder BR. Genotype-phenotype correlation in myotonic dystrophy. Clin Genet 1998; 53: 20-6.
8. Gharehbaghi-Schnell E, Finsterer J, Korschineck I, Mamoli B, Binder BR. Myotonic dystrophy: molecular genetics and diagnosis. Wien Klin Wochenschr 1998; 110: 7-14.
9. Gourdon G, Junlen C, Ashizawa T. Workshop report. AFM/MDA 1st International Myotonic Dystrophy Consortium Conference. Neuromuscul Disord 1998; 8: 432-7.
10. Harper PS, Rüdel R. Myotonic dystrophy. In: Engel AG, Franzini-Armstrong C (eds): Myology. Basic and clinical. New York, Mc Grawhill, 1994; pp 1192-1219.
11. Hedberg B, Anvret M, Ansved T. CTG-repeat length in distal and proximal leg muscles of symptomatic and non-symptomatic patients with myotonic dystrophy: relation to muscle strength and degree of histopathological abnormalities. Eur J Neurol 1999; 6: 341-6.
12. Korade-Mirnics Z, Babitzke P, Hoffman E. Myotonic dystrophy: molecular windows on a complex etiology. Nucleic Acid Res 1998; 26: 1363-8.
13. Lu X, Timchenko NA, Timchenko LT. Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. Hum Mol Genet 1999; 8: 53-60.
14. Martinello F, Piazza A, Pastorello E, Angelini C, Trevisan CP. Clinical and neuroimaging of central nervous system in congenital myotonic dystrophy. J Neurol 1999; 246: 186-92.
15. Martorell L, Monckton DG, Gamez J, Johnson KJ, Gich I, Lopez de Munain A, Baiget M. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet 1998; 7: 307-12.
16. Parniewski P, Bacolla A, Jaworski A, Wells RD. Nucleotide excision repair affects the stability of long transcribed (CTG.CAG) tracts in an orientation-dependent manner in Escherichia coli. Nucleic Acid Res 1999; 27: 616-23.
17. Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998; 280: 737-40.
18. Ranum LPW, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet 1998; 19: 196-8.
19. Ricker K, Grimm T, Koch MC, Schneider C, Kress W, Reimers CD, Schulte-Mattler W, Mueller-Myhsok B, Soyka KV, Mueller CR. Linkage of proximal myotonic myopathy to chromosome 3q. Neurology 1999; 52: 170-1.
20. Ricker K, Kooch M, Lehmann-Horn F et al. Proximal myotonic myopathy - clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995; 52: 25-31.
21. Simmons Z, Thornton CA, Seltzer WE, Richards SC. Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy. Neurology 1998; 50: 1501-4.
22. Spranger M, Janssen B, Rating D, Spranger S. Das Krankheitsbild der myotonen Dystrophie bei Patienten mit großer CTG-Tripletexpansion. Nervenarzt 1999; 70: 131-5.
23. Steinbach P, Gläser D, Vogel W, Wolf M, Schwemmle S. The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. Am J Hum Genet 1998; 62: 278-85.
24. Thornton CA, Ashizawa T. Getting a grip on the myotonic dystrophies. Neurology 1999; 52: 12-3.
25. Timchenko LT. Human Genetics '99: trinucleotide repeats. Myotonic Dystrophies: the role of RNA, CUG triplet repeats. Am J Hum Genet 1999; 64: 360-4.
26. Winchester CL, Ferrier RK, Sermoni A, Clark BJ, Johnson KJ. Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. Hum Mol Genet 1999; 8: 481-92.