The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy
Abstract
A deficiency of the protein dystrophin has recently been shown to be the probable cause of Duchenne's muscular dystrophy. We sought to determine the relation between the clinical phenotype and the status of dystrophin in muscle-biopsy specimens from 103 patients with various neuromuscular disorders. We found very low levels (less than 3 percent of normal levels) or no dystrophin in the severe Duchenne phenotype (35 of 38 patients), low concentrations of dystrophin in the intermediate (outlier) phenotype (4 of 7), and dystrophin of abnormal molecular weight in the mild Becker phenotype (12 of 18). Normal levels of dystrophin of normal molecular weight were found in nearly all the patients (38 of 40) with 20 other neuromuscular disorders we studied. These data show the clinical consequences of both quantitative alterations (in Duchenne's and intermediate dystrophy) in a single protein. The biochemical assay for dystrophin should prove helpful in delineating myopathies that overlap clinically with Duchenne's and Becker's dystrophies, and it shows promise as an accurate diagnostic tool.
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Citations
Cites
Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4
LAEMMLI, U. K. (1970) · Nature · doi:10.1038/227680a0 · Cited by 249,961
Dystrophin: the protein product of the Duchenne muscular dystrophy locus
Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1987) · Cell · doi:10.1016/0092-8674(87)90579-4 · Cited by 4,693
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Cited by
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
Self-citationDetection 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
Self-citationSystemic Administration of PRO051 in Duchenne's Muscular Dystrophy
Goemans, N. M., Tulinius, M., van den Akker, J. T., Burm, B. E., Ekhart, P. F., Heuvelmans, N., Holling, T., Janson, A. A., Platenburg, G. J., Sipkens, J. A., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1011367 · Cited by 678
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin
England, S. B., Nicholson, L. V. B., Johnson, M. A., Forrest, S. M., Love, D. R., Zubrzycka-Gaarn, E. E., Bulman, D. E., Harris, J. B., & Davies, K. E. (1990) · Nature · doi:10.1038/343180a0 · Cited by 623
Self-citationThe homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs
Cooper, B. J., Winand, N. J., Stedman, H., Valentine, B. A., Hoffman, E. P., Kunkel, L. M., Scott, M.-O., Fischbeck, K. H., Kornegay, J. N., Avery, R. J., et al. (1988) · Nature · doi:10.1038/334154a0 · Cited by 428
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Metadata
- Authors
- Hoffman, E. P., Fischbeck, K. H., Brown, R. H., Johnson, M., Medori, R., Loire, J. D., Harris, J. B., Waterston, R., Brooke, M., Specht, L., Kupsky, W., Chamberlain, J., Caskey, C. T., Shapiro, F., & Kunkel, L. M.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1988-05-26
- Volume
- 318
- Issue
- 21
- Pages
- 1363-1368
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2322780762
- Cited by
- 927
- References
- 2
- FWCI
- 25.28
- Type
- journal article
- Language
- en
- Open access
- closed
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- Hoffman, E. P., Fischbeck, K. H., Brown, R. H., Johnson, M., Medori, R., Loire, J. D., Harris, J. B., Waterston, R., Brooke, M., Specht, L., Kupsky, W., Chamberlain, J., Caskey, C. T., Shapiro, F., & Kunkel, L. M. (1988). Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy. New England Journal of Medicine. https://doi.org/10.1056/nejm198805263182104
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
