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Previous Volume 329:921-925 September 23, 1993 Number 13 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Several forms of hereditary dilated cardiomyopathy have been identified; with the exception of those resulting from mutations of mitochondrial DNA,^1,2 no pathological finding can be used to differentiate the conditions, so their distinction depends on the pattern of transmission. Autosomal recessive, autosomal dominant, and matrilinear forms have been reported; several families with X-linked dilated cardiomyopathy have also been described^3,4,5.

X-linked dilated cardiomyopathy is a progressive myocardial disease presenting as congestive heart failure in teenage boys without clinical signs of skeletal myopathy⁵. No information is 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.

References

Related Letters:

X-Linked Dilated Cardiomyopathy
Bies R. D., Roubicek M., Towbin J. A., Ortiz-Lopez R., Muntoni F.
Extract | Full Text  
N Engl J Med 1994; 330:368-370, Feb 3, 1994. Correspondence

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• 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]  
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• 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]  
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• 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]  
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• 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]  
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