The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
Open accessAbstract
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 described3–5. 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 . . .
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Cites
Dystrophin: the protein product of the Duchenne muscular dystrophy locus
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The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
Koenig, M., Monaco, A. P., & Kunkel, L. M. (1988) · Cell · doi:10.1016/0092-8674(88)90383-2 · Cited by 1,538
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
Chamberlain, J. S., Gibbs, R. A., Rainer, J. E., Nguyen, P. N., & Thomas, C. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.23.11141 · Cited by 1,262
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Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
Beggs, A., Koenig, M., Boyce, F., & Kunkel, L. (1990) · Human Genetics · doi:10.1007/bf00205170 · Cited by 688
Beggs, A. H., Hoffman, E. P., Snyder, J. R., Arahata, K., Specht, L. A., Shapiro, F., Angelini, C. I., Sugita, H., & Kunkel, L. M. (1991) · PubMed · Cited by 410
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The Cardiomyopathy of Progressive Muscular Dystrophy
PERLOFF, J. K., DE LEON, A. C., & O'DOHERTY, D. (1966) · Circulation · doi:10.1161/01.cir.33.4.625 · Cited by 250
Duchenne muscular dystrophy gene product is not identical in muscle and brain
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Cited by
Bozkurt, B., Colvin, M., Cook, J., Cooper, L. T., Deswal, A., Fonarow, G. C., Francis, G. S., Lenihan, D., Lewis, E. F., McNamara, D. M., et al. (2016) · Circulation · doi:10.1161/cir.0000000000000455 · Cited by 891
Weintraub, R. G., Semsarian, C., & Macdonald, P. (2017) · The Lancet · doi:10.1016/s0140-6736(16)31713-5 · Cited by 649
Dystrophin-Deficient Cardiomyopathy
Kamdar, F., & Garry, D. J. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.02.081 · Cited by 384
Metavinculin mutations alter actin interaction in dilated cardiomyopathy
Olson, T. M., Illenberger, S., Kishimoto, N. Y., Huttelmaier, S., Keating, M. T., & Jockusch, B. M. (2002) · Circulation · doi:10.1161/hc0402.102930 · Cited by 278
Mohapatra, B., Jimenez, S., Lin, J. H., Bowles, K. R., Coveler, K. J., Marx, J. G., Chrisco, M. A., Murphy, R. T., Lurie, P. R., Schwartz, R. J., et al. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00142-2 · Cited by 269
Metadata
- Authors
- Muntoni, F., Cau, M., Ganau, A., Congiu, R., Arvedi, G., Mateddu, A., Marrosu, M. G., Cianchetti, C., Realdi, G., Cao, A., & Melis, M. A.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1993-09-23
- Volume
- 329
- Issue
- 13
- Pages
- 921-925
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W1718931754
- Cited by
- 416
- References
- 20
- FWCI
- 13.69
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy. https://app.cochat.ai/papers/10.1056/nejm199309233291304
- The paper
- Muntoni, F., Cau, M., Ganau, A., Congiu, R., Arvedi, G., Mateddu, A., Marrosu, M. G., Cianchetti, C., Realdi, G., Cao, A., & Melis, M. A. (1993). Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy. New England Journal of Medicine. https://doi.org/10.1056/nejm199309233291304
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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