Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
Francesco Muntoni, Milena Cau, Antonello Ganau, Rita Congiu, Giuseppina Arvedi, Anna Mateddu, Maria Giovanna Marrosu, Carlo Cianchetti, Giuseppe Realdi, Antonio Cao, and Maria Antonietta Melis
Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.
Several forms of hereditary dilated cardiomyopathy have beenidentified; with the exception of those resulting from mutationsof mitochondrial DNA,1,2 no pathological finding can be usedto differentiate the conditions, so their distinction dependson the pattern of transmission. Autosomal recessive, autosomaldominant, and matrilinear forms have been reported; severalfamilies with X-linked dilated cardiomyopathy have also beendescribed3,4,5.
X-linked dilated cardiomyopathy is a progressive myocardialdisease presenting as congestive heart failure in teenage boyswithout clinical signs of skeletal myopathy5. No informationis available on the pathogenetic defect involved in this disorder,although cardiomyopathy is an associated . . . [Full Text of this Article]
Case Report
Methods
Immunohistochemical Study of Skeletal Muscle
DNA Studies
Results
Muscle Biopsy
DNA Analysis
Discussion
Source Information
From the Istituto di Neuropsichiatria Infantile (F.M., A.M., M.G.M., C.C.) and the Istituto di Clinica e Biologia dell'Eta' Evolutiva (M.C., R.C., A.C., M.A.M.), Cagliari; and the Istituto di Clinica Medica Generale e Terapia Medica, Sassari (A.G., G.A., G.R.) -- all in Italy.
Address reprint requests to Dr. Muntoni at the Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Rd., London W12 OHS, United Kingdom.
Philipp, U., Broschk, C., Vollmar, A., Distl, O.
(2007). Evaluation of Tafazzin as Candidate for Dilated Cardiomyopathy in Irish Wolfhounds. J Hered
0: esm045v1-
[Abstract][Full Text]
Kimura, S., Ikezawa, M., Ozasa, S., Ito, K., Ueno, H., Yoshioka, K., Ijiri, S., Nomura, K., Nakamura, K., Matuskura, M., Miike, T.
(2007). Novel Mutation in Splicing Donor of Dystrophin Gene First Exon in a Patient With Dilated Cardiomyopathy but No Clinical Signs of Skeletal Myopathy. J Child Neurol
22: 901-906
[Abstract]
Ashrafian, H., Watkins, H.
(2007). Reviews of Translational Medicine and Genomics in Cardiovascular Disease: New Disease Taxonomy and Therapeutic Implications: Cardiomyopathies: Therapeutics Based on Molecular Phenotype. J Am Coll Cardiol
49: 1251-1264
[Abstract][Full Text]
Section on Cardiology and Cardiac Surgery,
(2005). Cardiovascular Health Supervision for Individuals Affected by Duchenne or Becker Muscular Dystrophy. Pediatrics
116: 1569-1573
[Abstract][Full Text]
Bridges, C. R., Gopal, K., Holt, D. E., Yarnall, C., Cole, S., Anderson, R. B., Yin, X., Nelson, A., Kozyak, B. W., Wang, Z., Lesniewski, J., Su, L. T., Thesier, D. M., Sundar, H., Stedman, H. H.
(2005). Efficient myocyte gene delivery with complete cardiac surgical isolation in situ. J. Thorac. Cardiovasc. Surg.
130: 1364-1364
[Abstract][Full Text]
Mahon, N. G., Murphy, R. T., MacRae, C. A., Caforio, A. L.P., Elliott, P. M., McKenna, W. J.
(2005). Echocardiographic Evaluation in Asymptomatic Relatives of Patients with Dilated Cardiomyopathy Reveals Preclinical Disease. ANN INTERN MED
143: 108-115
[Abstract][Full Text]
Burkett, E. L., Hershberger, R. E.
(2005). Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol
45: 969-981
[Abstract][Full Text]
Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., Matsuzaki, M., Choi, B. Y., Bae, S. W., You, C. W., Han, K. H., Park, J. E., Knoll, R., Hoshijima, M., Chien, K. R., Kimura, A.
(2004). Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol
44: 2192-2201
[Abstract][Full Text]
De Repentigny, Y., Marshall, P., Worton, R. G., Kothary, R.
(2004). The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice. Hum Mol Genet
13: 2853-2862
[Abstract][Full Text]
Katsuragi, N., Morishita, R., Nakamura, N., Ochiai, T., Taniyama, Y., Hasegawa, Y., Kawashima, K., Kaneda, Y., Ogihara, T., Sugimura, K.
(2004). Periostin as a Novel Factor Responsible for Ventricular Dilation. Circulation
110: 1806-1813
[Abstract][Full Text]
Cohen, N, Muntoni, F
(2004). Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart
90: 835-841
[Abstract][Full Text]
Karkkainen, S., Helio, T., Miettinen, R., Tuomainen, P., Peltola, P., Rummukainen, J., Ylitalo, K., Kaartinen, M., Kuusisto, J., Toivonen, L., Nieminen, M. S, Laakso, M., Peuhkurinen, K.
(2004). A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy. Eur Heart J
25: 885-893
[Abstract][Full Text]
Lapidos, K. A., Kakkar, R., McNally, E. M.
(2004). The Dystrophin Glycoprotein Complex: Signaling Strength and Integrity for the Sarcolemma. Circ. Res.
94: 1023-1031
[Abstract][Full Text]
Pyle, W. G., Solaro, R. J.
(2004). At the Crossroads of Myocardial Signaling: The Role of Z-Discs in Intracellular Signaling and Cardiac Function. Circ. Res.
94: 296-305
[Abstract][Full Text]
Towbin, J. A.
(2003). A noninvasive means of detecting preclinical cardiomyopathy in Duchenne muscular dystrophy?. J Am Coll Cardiol
42: 317-318
[Full Text]
Scopacasa, B. S., Teixeira, V. P. A., Franchini, K. G.
(2003). Colchicine attenuates left ventricular hypertrophy but preserves cardiac function of aortic-constricted rats. J. Appl. Physiol.
94: 1627-1633
[Abstract][Full Text]
Taylor, M. R. G., Fain, P. R., Sinagra, G., Robinson, M. L., Robertson, A. D., Carniel, E., Di Lenarda, A., Bohlmeyer, T. J., Ferguson, D. A., Brodsky, G. L., Boucek, M. M., Lascor, J., Moss, A. C., Li, W.-L. P., Stetler, G. L., Muntoni, F., Bristow, M. R., Mestroni, L., Familial Dilated Cardiomyopathy Registry Research,
(2003). Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol
41: 771-780
[Abstract][Full Text]
Doevendans, P. A.
(2003). Genetic Polymorphisms and Cardiac Failure. SEMIN CARDIOTHORAC VASC ANESTH
7: 23-29
Muntoni, F.
(2003). Cardiac Complications of Childhood Myopathies. J Child Neurol
18: 191-202
[Abstract]
Bowles, N.E.
(2002). The molecular biology of dilated cardiomyopathy. Eur Heart J Suppl
4: I2-I7
[Abstract]
Feng, J., Yan, J., Buzin, C. H., Sommer, S. S., Towbin, J. A.
(2002). Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. J Am Coll Cardiol
40: 1120-1124
[Abstract][Full Text]
Mahon, N. G., Madden, B. P., Caforio, A. L. P., Elliott, P. M., Haven, A. J., Keogh, B. E., Davies, M. J., McKenna, W. J.
(2002). Immunohistologic evidence of myocardial disease in apparently healthy relatives of patients with dilated cardiomyopathy. J Am Coll Cardiol
39: 455-462
[Abstract][Full Text]
Olson, T. M., Illenberger, S., Kishimoto, N. Y., Huttelmaier, S., Keating, M. T., Jockusch, B. M.
(2002). Metavinculin Mutations Alter Actin Interaction in Dilated Cardiomyopathy. Circulation
105: 431-437
[Abstract][Full Text]
Miyamoto, Y., Akita, H., Shiga, N., Takai, E., Iwai, C., Mizutani, K., Kawai, H., Takarada, A., Yokoyama, M.
(2001). Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population. Eur Heart J
22: 2284-2289
[Abstract]
Bastianutto, C., Bestard, J. A., Lahnakoski, K., Broere, D., De Visser, M., Zaccolo, M., Pozzan, T., Ferlini, A., Muntoni, F., Patarnello, T., Klamut, H. J.
(2001). Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. Hum Mol Genet
10: 2627-2635
[Abstract][Full Text]
Su, Z., Yao, A., Zubair, I., Sugishita, K., Ritter, M., Li, F., Hunter, J. J., Chien, K. R., Barry, W. H.
(2001). Effects of deletion of muscle LIM protein on myocyte function. Am. J. Physiol. Heart Circ. Physiol.
280: H2665-H2673
[Abstract][Full Text]
Saotome, M., Yoshitomi, Y., Kojima, S., Kuramochi, M.
(2001). Dilated Cardiomyopathy of Becker-Type Muscular Dystrophy with Exon 4 Deletion: A Case Report. ANGIOLOGY
52: 343-347
[Abstract]
Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese, K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H., Bowles, N. E., Towbin, J. A.
(2001). Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome. Circulation
103: 1256-1263
[Abstract][Full Text]
Arbustini, E., Morbini, P., Pilotto, A., Gavazzi, A., Tavazzi, L.
(2000). Familial dilated cardiomyopathy: from clinical presentation to molecular genetics. Eur Heart J
21: 1825-1832
KOMAJDA, M
(2000). Genetics of dilated cardiomyopathy: a molecular maze?. Heart
84: 463-464
[Full Text]
Badorff, C., Fichtlscherer, B., Rhoads, R. E., Zeiher, A. M., Muelsch, A., Dimmeler, S., Knowlton, K. U.
(2000). Nitric Oxide Inhibits Dystrophin Proteolysis by Coxsackieviral Protease 2A Through S-Nitrosylation : A Protective Mechanism Against Enteroviral Cardiomyopathy. Circulation
102: 2276-2281
[Abstract][Full Text]
Lee, G.-H., Badorff, C., Knowlton, K. U.
(2000). Dissociation of Sarcoglycans and the Dystrophin Carboxyl Terminus From the Sarcolemma in Enteroviral Cardiomyopathy. Circ. Res.
87: 489-495
[Abstract][Full Text]
Arbustini, E., Diegoli, M., Morbini, P., Dal Bello, B., Banchieri, N., Pilotto, A., Magani, F., Grasso, M., Narula, J., Gavazzi, A., Vigano, M., Tavazzi, L.
(2000). Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy. J Am Coll Cardiol
35: 1760-1768
[Abstract][Full Text]
Badorff, C., Berkely, N., Mehrotra, S., Talhouk, J. W., Rhoads, R. E., Knowlton, K. U.
(2000). Enteroviral Protease 2A Directly Cleaves Dystrophin and Is Inhibited by a Dystrophin-based Substrate Analogue. J. Biol. Chem.
275: 11191-11197
[Abstract][Full Text]
Brodsky, G. L., Muntoni, F., Miocic, S., Sinagra, G., Sewry, C., Mestroni, L.
(2000). Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement. Circulation
101: 473-476
[Abstract][Full Text]
Haefliger, J.-A., Goy, J.J., Waeber, G.
(1999). Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes. Eur Heart J
20: 1843-1843
Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Spudich, S., De Girolami, U., Seidman, J.G., Seidman, C. E., Muntoni, F., Muehle, G., Johnson, W., McDonough, B.
(1999). Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease. NEJM
341: 1715-1724
[Abstract][Full Text]
Mestroni, L., Rocco, C., Gregori, D., Sinagra, G., Di Lenarda, A., Miocic, S., Vatta, M., Pinamonti, B., Muntoni, F., Caforio, A. L. P., McKenna, W. J., Falaschi, A., Giacca, M., Camerini, F., the Heart Muscle Disease Study Group,
(1999). Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity. J Am Coll Cardiol
34: 181-190
[Abstract][Full Text]
Yang, D., Yu, J., Luo, Z., Carthy, C. M., Wilson, J. E., Liu, Z., McManus, B. M.
(1999). Viral Myocarditis : Identification of Five Differentially Expressed Genes in Coxsackievirus B3–Infected Mouse Heart. Circ. Res.
84: 704-712
[Abstract][Full Text]
Priori, S. G., Barhanin, J., Hauer, R. N. W., Haverkamp, W., Jongsma, H. J., Kleber, A. G., McKenna, W. J., Roden, D. M., Rudy, Y., Schwartz, K., Schwartz, P. J., Towbin, J. A., Wilde, A. M.
(1999). Genetic and Molecular Basis of Cardiac Arrhythmias: Impact on Clinical Management Parts I and II. Circulation
99: 518-528
[Abstract][Full Text]
Priori, S.G., Barhanin, J., Hauer, R.N.W., Haverkamp, W., Jongsma, H.J., Kleber, A.G., McKenna, W.J., Roden, D.M., Rudy, Y., Schwartz, K., Schwartz, P.J., Towbin, J.A., Wilde, A.
(1999). Genetic and molecular basis of cardiac arrhythmias: Impact on clinical management. Eur Heart J
20: 174-195
Banwell, B. L., Becker, L. E., Jay, V., Taylor, G. P., Vajsar, J.
(1999). Cardiac Manifestations of Congenital Fiber-Type Disproportion Myopathy. J Child Neurol
14: 83-87
[Abstract]
Ichihara, S., Yamada, Y., Yokota, M.
(1998). Association of a G994->T Missense Mutation in the Plasma Platelet-Activating Factor Acetylhydrolase Gene With Genetic Susceptibility to Nonfamilial Dilated Cardiomyopathy in Japanese. Circulation
98: 1881-1885
[Abstract][Full Text]
Jones, H. R., de la Monte, S. M.
(1998). Case 22-1998- A 22-Year-Old Man with a Cardiac Transplant and Creatine Kinase Elevation. NEJM
339: 182-190
[Full Text]
Gallagher, P. G., Forget, B. G.
(1998). An Alternate Promoter Directs Expression of a Truncated, Muscle-specific Isoform of the Human Ankyrin 1 Gene. J. Biol. Chem.
273: 1339-1348
[Abstract][Full Text]
Sakamoto, A., Ono, K., Abe, M., Jasmin, G., Eki, T., Murakami, Y., Masaki, T., Toyo-oka, T., Hanaoka, F.
(1997). Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta -sarcoglycan, in hamster: An animal model of disrupted dystrophin-associated glycoprotein complex. Proc. Natl. Acad. Sci. USA
94: 13873-13878
[Abstract][Full Text]
Muntoni, F., Di Lenarda, A., Porcu, M., Sinagra, G., Mateddu, A., Marrosu, G., Ferlini, A., Cau, M., Milasin, J., Melis, M. A., Marrosu, M. G., Cianchetti, C., Sanna, A., Falaschi, A., Camerini, F., Giacca, M., Mestroni, L.
(1997). Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart
78: 608-612
[Abstract][Full Text]
Leiden, J. M.
(1997). The Genetics of Dilated Cardiomyopathy -- Emerging Clues to the Puzzle. NEJM
337: 1080-1081
[Full Text]
Bowles, N. E., Wang, Q., Towbin, J. A.
(1997). Prospects for adenovirus-mediated gene therapy of inherited diseases of the myocardium. Cardiovasc Res
35: 422-430
[Full Text]
Beggs, A. H.
(1997). Dystrophinopathy, The Expanding Phenotype: Dystrophin Abnormalities in X-Linked Dilated Cardiomyopathy. Circulation
95: 2344-2347
[Full Text]
Ortiz-Lopez, R., Li, H., Su, J., Goytia, V., Towbin, J. A.
(1997). Evidence for a Dystrophin Missense Mutation as a Cause of X-Linked Dilated Cardiomyopathy. Circulation
95: 2434-2440
[Abstract][Full Text]
Maeda, M., Holder, E., Lowes, B., Valent, S., Bies, R. D.
(1997). Dilated Cardiomyopathy Associated With Deficiency of the Cytoskeletal Protein Metavinculin. Circulation
95: 17-20
[Abstract][Full Text]
Melacini, P., Fanin, M., Danieli, G.A., Villanova, C., Martinello, F., Miorin, M., Freda, M.P., Miorelli, M., Mostacciuolo, M.L., Fasoli, G., Angelini, C., Volta, S. D.
(1996). Myocardial Involvement Is Very Frequent Among Patients Affected With Subclinical Becker's Muscular Dystrophy. Circulation
94: 3168-3175
[Abstract][Full Text]
Schwartz, M. L., Cox, G. F., Lin, A. E., Korson, M. S., Perez-Atayde, A., Lacro, R. V., Lipshultz, S. E.
(1996). Clinical Approach to Genetic Cardiomyopathy in Children. Circulation
94: 2021-2038
[Abstract][Full Text]
Meng, H., Leddy, J. J., Frank, J., Holland, P., Tuana, B. S.
(1996). The Association of Cardiac Dystrophin with Myofibrils/Z-disc Regions in Cardiac Muscle Suggests a Novel Role in the Contractile Apparatus. J. Biol. Chem.
271: 12364-12371
[Abstract][Full Text]
Fadic, R., Sunada, Y., Waclawik, A. J., Buck, S., Lewandoski, P. J., Campbell, K. P., Lotz, B. P.
(1996). Deficiency of a Dystrophin-Associated Glycoprotein (Adhalin) in a Patient with Muscular Dystrophy and Cardiomyopathy. NEJM
334: 362-366
[Full Text]
Samaha, F. J., Quinlan, J. G.
(1996). Topical Review: Dystrophinopathies: Clarification and Complication. J Child Neurol
11: 13-20
[Abstract]
Samaha, F. J., Quinlan, J. G.
(1996). Myalgia and Cramps: Dystrophinopathy With Wide-Ranging Laboratory Findings. J Child Neurol
11: 21-24
[Abstract]
Kelly, D. P., Strauss, A. W.
(1994). Inherited Cardiomyopathies. NEJM
330: 913-919
[Full Text]
Bies, R. D., Roubicek, M., Towbin, J. A., Ortiz-Lopez, R., Muntoni, F.
(1994). X-Linked Dilated Cardiomyopathy. NEJM
330: 368-370
[Full Text]
Michels, V. V.
(1993). Progress in Defining the Causes of Idiopathic Dilated Cardiomyopathy. NEJM
329: 960-961
[Full Text]
Marshall, P., Chartrand, N., Worton, R. G.
(2001). The Mouse Dystrophin Enhancer Is Regulated by MyoD, E-box-binding Factors, and by the Serum Response Factor. J. Biol. Chem.
276: 20719-20726
[Abstract][Full Text]
Frey, N., Richardson, J. A., Olson, E. N.
(2000). Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. Proc. Natl. Acad. Sci. USA
97: 14632-14637
[Abstract][Full Text]