Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene

Journal of Clinical Neuroscience

Volumn 15, Issue 7, 2008, Pages 757-763

  Nakamura, Akinori ^a,b   Yoshida, Kunihiro ^a   Fukushima, Kazuhiro ^a   Ueda, Hideho ^c   Urasawa, Nobuyuki ^b   Koyama, Jun ^a   Yazaki, Yoshikazu ^a   Yazaki, Masahide ^a   Sakai, Toshiaki ^d   Haruta, Seiichi ^e   Takeda, Shin'ichi ^b   Ikeda, Shu ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c SHINSHU UNIVERSITY   (Japan)

^d Division of Neurology   (Japan)

^e Fukuyama Cardiovascular Hospital   (Japan)

Author keywords

Becker muscular dystrophy; cadiomyopathy; Duchenne muscular dystrophy gene; Dystrophin; X linked dilated cardiomyopathy

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; DYSTROPHIN;

AGED; ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; DMD GENE; DRUG RESPONSE; DUCHENNE MUSCULAR DYSTROPHY; EXON; FEMALE; FOLLOW UP; GENE; GENE DELETION; HEART MUSCLE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOLECULAR WEIGHT; MUSCLE ATROPHY; MUSCLE WEAKNESS; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; SKELETAL MUSCLE; SYMPTOM; VIRUS INFECTION; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; CARDIOMYOPATHY, DILATED; DISEASE PROGRESSION; DYSTROPHIN; EXONS; FOLLOW-UP STUDIES; GENE DELETION; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; MYOCARDIUM; PHENOTYPE;

EID: 44249125023     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jocn.2006.12.012     Document Type: Article

References (26)

1. Berko B.A., and Swift M. X-linked dilated cardiomyopathy. N Engl J Med 316 (1987) 1186-1191
2. Towbin J.A., Hejtmancik J.F., Brink P., et al. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 87 (1993) 1854-1865
3. Muntoni F., Cau M., Ganau A., et al. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 329 (1993) 921-925
4. Milasin J., Muntoni F., Severini G.M., et al. A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet 5 (1996) 73-79
5. Bies R.D., Maeda M., Roberds S.L., et al. A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy. J Mol Cell Cardiol 29 (1997) 3175-3188
6. Yoshida K., Nakamura A., Yazaki M., et al. Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum Mol Genet 7 (1998) 1129-1132
7. Muntoni F., Di Lenarda A., Porcu M., et al. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart 78 (1997) 608-612
8. Arbustini E., Diegoli M., Morbini P., et al. Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy. J Am Coll Cardiol 35 (2000) 1760-1768
9. Ortiz-Lopez R., Li H., Su J., et al. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation 95 (1997) 2434-2440
10. Ferlini A., Galie N., Merlini L., et al. A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet 63 (1998) 436-446
11. Franz W.M., Muller M., et al. Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. Lancet 355 (2000) 1781-1785
12. Ferlini A., Sewry C., Melis M.A., et al. X-linked dilated cardiomyopathy and the dystrophin gene. Neuromuscl Disord 9 (1999) 339-346
13. Muntoni F., Melis M.A., Ganau A., et al. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet 56 (1995) 151-157
14. Muntoni F., Wilson L., Marrosu G., et al. A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest 96 (1995) 693-699
15. Nakamura A., Ikeda S., Yazaki M., et al. Up-regulation of the brain and Purkinje-cell forms of dystrophin transcripts, in Becker muscular dystrophy. Am J Hum Genet 60 (1997) 1555-1558
16. Piccolo G., Azan G., Tonin P., et al. Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. Neuromuscl Disord 4 (1994) 143-146
17. Siciliano G., Fanin M., Angelini C., et al. Prevalent cardiac involvement in dystrophin Becker type mutation. Neuromuscl Disord 4 (1994) 381-386
18. Muntoni F., Torelli S., and Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2 (2003) 731-740
19. Beggs A.H., Hoffman E.P., Snyder J.R., et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 49 (1991) 54-67
20. Tasaki N., Yoshida K., Haruta S., et al. X-linked dilated cardiomyopathy with a large hot-spot deletion in the dystrophin gene. Intern Med 40 (2001) 1215-1221
21. Yazaki M., Yoshida K., Nakamura A., et al. Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years. Eur Neurol 42 (1999) 145-149
22. Carsana A., Frisso G., Tremolaterra M.R., et al. Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with dsease severity. Ann Human Genet 69 (2005) 253-259
23. Ishikawa Y., Bach J.R., and Minami R. Cardioprotection for Duchenne's muscular dystrophy. Am Heart J 137 (1999) 895-902
24. Jefferies J.L., Eidem B.W., Belmont J.W., et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 112 (2005) 2799-2804
25. Xiong D., Lee G.H., Badorff C., et al. Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: a genetic predisposition to viral heart disease. Nat Med 8 (2002) 872-877
26. Badorff C., Fichtlscherer B., Rhoads R.E., et al. Nitric oxide inhibits dystrophin proteolysis by coxsackieviral protease 2A through S-nitrosylation: A protective mechanism against enteroviral cardiomyopathy. Circulation 102 (2000) 2276-2281