Relation of cardiac abnormalities and CTG-repeat size in myotonic dystrophy

Clinical Genetics

Volumn 59, Issue 5, 2001, Pages 350-355

  Finsterer, J ^a   Gharehbaghi Schnell, E ^b   Stollberger C ^c   Fheodoroff, K ^d   Seiser, A ^e  

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

^b UNIVERSITY OF VIENNA   (Austria)

^c KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

^d Gailtal Klinik   (Austria)

^e Neurological Department   (Austria)

Author keywords

Cardiac involvement; Electrocardiography; Genetics; Molecular biology; Neuromuscular disorder; Transthoracic echocardiography

Indexed keywords

CELL NUCLEUS DNA; CYTOSINE; GUANINE; THYMINE;

ADULT; AGE; AGED; ANAMNESIS; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL OBSERVATION; CONTROLLED STUDY; ELECTROCARDIOGRAPHY; FEMALE; HEART; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART RATE; HEART VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM; HUMAN; LEUKOCYTE; MALE; MYOTONIC DYSTROPHY; PRIORITY JOURNAL; PROSPECTIVE STUDY; QT INTERVAL; SCORING SYSTEM; THICKNESS; TRANSTHORACIC ECHOCARDIOGRAPHY; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; DNA; ELECTROCARDIOGRAPHY; FEMALE; HEART; HUMANS; MALE; MIDDLE AGED; MYOTONIC DYSTROPHY; TRINUCLEOTIDE REPEAT EXPANSION; TRINUCLEOTIDE REPEATS;

EID: 0035005864     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590509.x     Document Type: Article

References (20)

1. Gharehbaghi-Schnell E, Finsterer J, Korschineck I, Mamoli B, Binder B. Genotype - phenotype correlation in myotonic dystrophy. Clin Genet 1998: 53: 20-26.
2. Harper PS, Rüdel R. Myotonic dystrophy. In: Engel AG, Franzini-Armstrong C, eds. Myology. Basic and Clinics. New York: McGraw-Hill, 1994: 1192-1219.
3. Spranger M, Janssen B, Rating D, Spranger S. The clinical spectrum of patients with myotonic dystrophy with large triplet repeat expansion. Nervenarzt 1999: 70: 131-135.
4. Thornton C. The myotonic dystrophies. Sem Neurol 1999: 19: 25-32.
5. Finsterer J, Stöllberger C, Köcher K, Mamoli B. ECG abnormalities in myopathies, coronary heart disease and controls. Herz 1997: 22: 277-282.
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. Fragola PV, Luzi M, Calo L et al. Cardiac involvement in myotonic dystrophy. Am J Cardiol 1994: 74: 1070-1072.
8. Hyashi Y, Ikeda U, Kojo T et al. Cardiac abnormalities and cytosine-thymine-guanine trinucleotide repeats in myotonic dystrophy. Am Heart J 1997: 134: 292-297.
9. Igarashi H, Momoi MY, Yamagata T, Shiraishi H, Eguchi I. Hypertrophic cardiomyopathy in congenital myotonic dystrophy. Pediatr Neurol 1998: 18: 366-369.
10. Stöllberger C, Finsterer J, Keller H, Mamoli B, Slany J. Progression of cardiac involvement in patients with myotonic dystrophy, Becker's muscular dystrophy and mitochondrial myopathy during a two year follow-up. Cardiology 1998: 90: 173-179.
11. Tokgozoglu LS, Ashizawa T, Pacifico A, Armstrong RM, Epstein HF, Zoghbi WA. Cardiac involvement in a large kindred with myotonic dystrophy. J Am Med Assoc 1995: 274: 813-819.
12. Harley HG, Rundle SA, MacMillan JC et al. Size of the unstable CTG-repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993: 52: 1164-1674.
13. Lazarus A, Varin J, Ounnoughene Z et al. Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. Circulation 1999: 99: 1041-1046.
14. Melacini P, Villanova C, Menegazzo E et al. Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy. J Am Coll Cardiol 1995: 25: 239-245.
15. Mathieu J, De Brackeleer M, Prévost C, Bolly C. Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation. Neurology 1992: 42: 203-208.
16. Finsterer J, Gharehbaghi-Schnell E, Korschineck I et al. Phenotype and CTG-repeat size in myotonic dystrophy: a study of 26 patients and 55 relatives. J Neurogenet 1999: 13: 181-190.
17. Gharehbaghi-Schnell E, Finsterer J, Korschineck I, Mamoli B, Binder B. Myotonic dystrophy: molecular genetics and diagnosis. Wien Klin Wochenschr 1998: 110: 7-14.
18. Brook JD, McCurrach ME, Harley HG et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992: 68: 799-803.
19. Annane D, Duboc D, Mazoyer B et al. Correlation between decreased myocardial glucose phosphorylation and the DNA mutation size in myotonic dystrophy. Circulation 1994: 90: 2629-2634.
20. Hawley RJ, Colleran JA, Korneluk R, Surh LC. Correlation between decreased myocardial glucose phosphorylation and the DNA mutation size in myotonic dystrophy. Circulation 1997: 95: 1664-1665.