The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule
Abstract
The severe Duchenne and milder Becker muscular dystrophy are both caused by mutations in the DMD gene. This gene codes for dystrophin, a protein important for maintaining the stability of muscle‐fiber membranes. In 1988, Monaco and colleagues postulated an explanation for the phenotypic difference between Duchenne and Becker patients in the reading‐frame rule: In Duchenne patients, mutations induce a shift in the reading frame leading to prematurely truncated, dysfunctional dystrophins. In Becker patients, in‐frame mutations allow the synthesis of internally deleted, but largely functional dystrophins. Currently, over 4700 mutations have been reported in the Leiden DMD mutation database, of which 91% are in agreement with this rule. In this study we provide an update of the mutational variability in the DMD gene, particularly focusing on genotype–phenotype correlations and mutations that appear to be exceptions to the reading‐frame rule. Muscle Nerve, 2006
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Cites
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
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
Cited by
Duan, D., Goemans, N., Takeda, S., Mercuri, E., & Aartsma-Rus, A. (2021) · Nature Reviews Disease Primers · doi:10.1038/s41572-021-00248-3 · Cited by 1,312
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
Self-citationSystemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy
Duan, D. (2018) · Molecular Therapy · doi:10.1016/j.ymthe.2018.07.011 · Cited by 489
Tuffery-Giraud, S., Béroud, C., Leturcq, F., Yaou, R. B., Hamroun, D., Michel-Calemard, L., Moizard, M.-P., Bernard, R., Cossée, M., Boisseau, P., et al. (2009) · Human Mutation · doi:10.1002/humu.20976 · Cited by 377
The importance of genetic diagnosis for Duchenne muscular dystrophy
Aartsma-Rus, A., Ginjaar, I. B., & Bushby, K. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103387 · Cited by 369
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Metadata
- Authors
- Aartsma‐Rus, A., Van Deutekom, J. C. T., Fokkema, I. F., Van Ommen, G. B., & Den Dunnen, J. T.
- Venue
- Muscle & Nerve
- Publisher
- Wiley
- Published
- 2006-06-12
- Volume
- 34
- Issue
- 2
- Pages
- 135-144
- ISSN
- 0148-639X (ISSN-L)
- 1097-4598
- OpenAlex
- W2137703332
- Cited by
- 739
- References
- 2
- FWCI
- 7.37
- Type
- journal article
- Language
- en
- Open access
- closed
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- Aartsma‐Rus, A., Van Deutekom, J. C. T., Fokkema, I. F., Van Ommen, G. B., & Den Dunnen, J. T. (2006). Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule. Muscle & Nerve. https://doi.org/10.1002/mus.20586
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